{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:05:13Z","timestamp":1791857113012,"version":"4.3.4"},"reference-count":94,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2008,4,30]],"date-time":"2008-04-30T00:00:00Z","timestamp":1209513600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2008,4,30]],"date-time":"2008-04-30T00:00:00Z","timestamp":1209513600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Renal stone disease (nephrolithiasis) affects 3\u20135% of the population and is often associated with hypercalciuria. Hypercalciuric nephrolithiasis is a familial disorder in over 35% of patients and may occur as a monogenic disorder that is more likely to manifest itself in childhood. Studies of these monogenic forms of hypercalciuric nephrolithiasis in humans, e.g. Bartter syndrome, Dent\u2019s disease, autosomal dominant hypocalcemic hypercalciuria (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium. Thus, Bartter syndrome, an autosomal disease, is caused by mutations of the bumetanide-sensitive Na\u2013K\u2013Cl (NKCC2) co-transporter, the renal outer-medullary potassium (ROMK) channel, the voltage-gated chloride channel, CLC-Kb, the CLC-Kb beta subunit, barttin, or the calcium-sensing receptor (CaSR). Dent\u2019s disease, an X-linked disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrolithiasis, is due to mutations of the chloride\/proton antiporter\u00a05, CLC-5; ADHH is associated with activating mutations of the CaSR, which is a G-protein-coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type\u00a02c sodium\u2013phosphate co-transporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin-1, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia. These studies have provided valuable insights into the renal tubular pathways that regulate calcium reabsorption and predispose to hypercalciuria and nephrolithiasis.<\/jats:p>","DOI":"10.1007\/s00467-008-0807-0","type":"journal-article","created":{"date-parts":[[2008,4,29]],"date-time":"2008-04-29T06:44:57Z","timestamp":1209451497000},"page":"2321-2332","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":89,"title":["Genetic causes of hypercalciuric nephrolithiasis"],"prefix":"10.1007","volume":"24","author":[{"given":"Michael J.","family":"Stechman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nellie Y.","family":"Loh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajesh V.","family":"Thakker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,4,30]]},"reference":[{"key":"807_CR1","doi-asserted-by":"crossref","first-page":"1817","DOI":"10.1046\/j.1523-1755.2003.00917.x","volume":"63","author":"KK Stamatelou","year":"2003","unstructured":"Stamatelou KK, Francis ME, Jones CA, Nyberg LM, Curhan GC (2003) Time trends in reported prevalence of kidney stones in the United States: 1976\u20131994. Kidney Int 63:1817\u20131823","journal-title":"Kidney Int"},{"key":"807_CR2","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1097\/01.ASN.0000062960.26868.17","volume":"14","author":"KK Frick","year":"2003","unstructured":"Frick KK, Bushinsky DA (2003) Molecular mechanisms of primary hypercalciuria. J Am Soc Nephrol 14:1082\u20131095","journal-title":"J Am Soc Nephrol"},{"key":"807_CR3","first-page":"381","volume":"19","author":"SJ Scheinman","year":"1999","unstructured":"Scheinman SJ (1999) Nephrolithiasis. Semin Nephrol 19:381\u2013388","journal-title":"Semin Nephrol"},{"key":"807_CR4","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/S0094-0143(05)70362-1","volume":"24","author":"RL Kroovand","year":"1997","unstructured":"Kroovand RL (1997) Pediatric urolithiasis. Urol Clin North Am 24:173\u2013184","journal-title":"Urol Clin North Am"},{"key":"807_CR5","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/S0090-4295(99)80442-7","volume":"47","author":"TD Cohen","year":"1996","unstructured":"Cohen TD, Ehreth J, King LR, Preminger GM (1996) Pediatric urolithiasis: medical and surgical management. Urology 47:292\u2013303","journal-title":"Urology"},{"key":"807_CR6","first-page":"597","volume":"49","author":"WG Robertson","year":"1975","unstructured":"Robertson WG, Peacock M, Marshall RW, Speed R, Nordin BE (1975) Seasonal variations in the composition of urine in relation to calcium stone-formation. Clin Sci Mol Med 49:597\u2013602","journal-title":"Clin Sci Mol Med"},{"key":"807_CR7","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1681\/ASN.2004100888","volume":"16","author":"OW Moe","year":"2005","unstructured":"Moe OW, Bonny O (2005) Genetic hypercalciuria. J Am Soc Nephrol 16:729\u2013745","journal-title":"J Am Soc Nephrol"},{"key":"807_CR8","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1016\/S0140-6736(75)91830-9","volume":"1","author":"ES Parry","year":"1975","unstructured":"Parry ES, Lister IS (1975) Sunlight and hypercalciuria. Lancet 1:1063\u20131065","journal-title":"Lancet"},{"key":"807_CR9","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1056\/NEJM199303253281203","volume":"328","author":"GC Curhan","year":"1993","unstructured":"Curhan GC, Willett WC, Rimm EB, Stampfer MJ (1993) A prospective study of dietary calcium and other nutrients and the risk of symptomatic kidney stones. N Engl J Med 328:833\u2013838","journal-title":"N Engl J Med"},{"issue":"Suppl 1","key":"807_CR10","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1159\/000046295","volume":"81","author":"A Serio","year":"1999","unstructured":"Serio A, Fraioli A (1999) Epidemiology of nephrolithiasis. Nephron 81 [Suppl 1]:26\u201330","journal-title":"Nephron"},{"key":"807_CR11","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/S0889-8529(02)00036-1","volume":"31","author":"FB Stapleton","year":"2002","unstructured":"Stapleton FB (2002) Childhood stones. Endocrinol Metab Clin North Am 31:1001\u20131015","journal-title":"Endocrinol Metab Clin North Am"},{"key":"807_CR12","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1016\/j.urology.2005.10.020","volume":"67","author":"RD Schwarz","year":"2006","unstructured":"Schwarz RD, Dwyer NT (2006) Pediatric kidney stones: long-term outcomes. Urology 67:812\u2013816","journal-title":"Urology"},{"key":"807_CR13","doi-asserted-by":"crossref","first-page":"1587","DOI":"10.1007\/s00467-005-1883-z","volume":"20","author":"MA Cameron","year":"2005","unstructured":"Cameron MA, Sakhaee K, Moe OW (2005) Nephrolithiasis in children. Pediatr Nephrol 20:1587\u20131592","journal-title":"Pediatr Nephrol"},{"key":"807_CR14","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/S0025-6196(12)60043-3","volume":"68","author":"DS Milliner","year":"1993","unstructured":"Milliner DS, Murphy ME (1993) Urolithiasis in pediatric patients. Mayo Clin Proc 68:241\u2013248","journal-title":"Mayo Clin Proc"},{"key":"807_CR15","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1542\/peds.87.4.445","volume":"87","author":"JP Gearhart","year":"1991","unstructured":"Gearhart JP, Herzberg GZ, Jeffs RD (1991) Childhood urolithiasis: experiences and advances. Pediatrics 87:445\u2013450","journal-title":"Pediatrics"},{"key":"807_CR16","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/S0022-3468(87)80438-4","volume":"22","author":"H Choi","year":"1987","unstructured":"Choi H, Snyder HM, Duckett JW (1987) Urolithiasis in childhood: current management. J Pediatr Surg 22:158\u2013164","journal-title":"J Pediatr Surg"},{"key":"807_CR17","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1056\/NEJM196806132782403","volume":"278","author":"M Resnick","year":"1968","unstructured":"Resnick M, Pridgen DB, Goodman HO (1968) Genetic predisposition to formation of calcium oxalate renal calculi. N Engl J Med 278:1313\u20131318","journal-title":"N Engl J Med"},{"key":"807_CR18","first-page":"823","volume":"1","author":"WH Clubbe","year":"1894","unstructured":"Clubbe WH (1894) Family disposition to urinary concretions. Lancet 1:823","journal-title":"Lancet"},{"key":"807_CR19","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1007\/s004670000323","volume":"14","author":"C Polito","year":"2000","unstructured":"Polito C, La Manna A, Nappi B, Villani J, Di Toro R (2000) Idiopathic hypercalciuria and hyperuricosuria: family prevalence of nephrolithiasis. Pediatr Nephrol 14:1102\u20131104","journal-title":"Pediatr Nephrol"},{"key":"807_CR20","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.1681\/ASN.V8101568","volume":"8","author":"GC Curhan","year":"1997","unstructured":"Curhan GC, Willett WC, Rimm EB, Stampfer MJ (1997) Family history and risk of kidney stones. J Am Soc Nephrol 8:1568\u20131573","journal-title":"J Am Soc Nephrol"},{"key":"807_CR21","first-page":"465","volume":"19","author":"MG McGeown","year":"1960","unstructured":"McGeown MG (1960) Heredity in renal stone disease. Clin Sci 19:465\u2013471","journal-title":"Clin Sci"},{"key":"807_CR22","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1016\/S0022-5347(17)42497-9","volume":"139","author":"A Trinchieri","year":"1988","unstructured":"Trinchieri A, Mandressi A, Luongo P, Coppi F, Pisani E (1988) Familial aggregation of renal calcium stone disease. J Urol 139:478\u2013481","journal-title":"J Urol"},{"key":"807_CR23","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1111\/j.1523-1755.2005.00170.x","volume":"67","author":"DS Goldfarb","year":"2005","unstructured":"Goldfarb DS, Fischer ME, Keich Y, Goldberg J (2005) A twin study of genetic and dietary influences on nephrolithiasis: a report from the Vietnam Era Twin (VET) Registry. Kidney Int 67:1053\u20131061","journal-title":"Kidney Int"},{"key":"807_CR24","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1042\/cs1030259","volume":"103","author":"DJ Hunter","year":"2002","unstructured":"Hunter DJ, Lange M, Snieder H, MacGregor AJ, Swaminathan R, Thakker RV, Spector TD (2002) Genetic contribution to renal function and electrolyte balance: a twin study. Clin Sci (Lond) 103:259\u2013265","journal-title":"Clin Sci (Lond)"},{"key":"807_CR25","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/S1297-319X(00)00207-4","volume":"67","author":"M Audran","year":"2000","unstructured":"Audran M, Legrand E (2000) Hypercalciuria. Joint Bone Spine 67:509\u2013515","journal-title":"Joint Bone Spine"},{"key":"807_CR26","doi-asserted-by":"crossref","first-page":"2290","DOI":"10.1046\/j.1523-1755.2001.00746.x","volume":"59","author":"GC Curhan","year":"2001","unstructured":"Curhan GC, Willett WC, Speizer FE, Stampfer MJ (2001) Twenty-four-hour urine chemistries and the risk of kidney stones among women and men. Kidney Int 59:2290\u20132298","journal-title":"Kidney Int"},{"key":"807_CR27","first-page":"572","volume":"6","author":"CY Pak","year":"1997","unstructured":"Pak CY (1997) Nephrolithiasis. Curr Ther Endocrinol Metab 6:572\u2013576","journal-title":"Curr Ther Endocrinol Metab"},{"key":"807_CR28","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1056\/NEJM197902153000703","volume":"300","author":"FL Coe","year":"1979","unstructured":"Coe FL, Parks JH, Moore ES (1979) Familial idiopathic hypercalciuria. N Engl J Med 300:337\u2013340","journal-title":"N Engl J Med"},{"key":"807_CR29","first-page":"3907","volume":"84","author":"BY Reed","year":"1999","unstructured":"Reed BY, Heller HJ, Gitomer WL, Pak CY (1999) Mapping a gene defect in absorptive hypercalciuria to chromosome 1q23.3-q24. J Clin Endocrinol Metab 84:3907\u20133913","journal-title":"J Clin Endocrinol Metab"},{"key":"807_CR30","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1681\/ASN.V1051007","volume":"10","author":"P Scott","year":"1999","unstructured":"Scott P, Ouimet D, Valiquette L, Guay G, Proulx Y, Trouve ML, Gagnon B, Bonnardeaux A (1999) Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation. J Am Soc Nephrol 10:1007\u20131013","journal-title":"J Am Soc Nephrol"},{"key":"807_CR31","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1093\/ndt\/gfh754","volume":"20","author":"MT Wolf","year":"2005","unstructured":"Wolf MT, Zalewski I, Martin FC, Ruf R, Muller D, Hennies HC, Schwarz S, Panther F, Attanasio M, Acosta HG, Imm A, Lucke B, Utsch B, Otto E, Nurnberg P, Nieto VG, Hildebrandt F (2005) Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage. Nephrol Dial Transplant 20:909\u2013914","journal-title":"Nephrol Dial Transplant"},{"key":"807_CR32","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1056\/NEJM197503062921002","volume":"292","author":"CY Pak","year":"1975","unstructured":"Pak CY, Kaplan R, Bone H, Townsend J, Waters O (1975) A simple test for the diagnosis of absorptive, resorptive and renal hypercalciurias. N Engl J Med 292:497\u2013500","journal-title":"N Engl J Med"},{"key":"807_CR33","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1016\/S0022-5347(17)54715-1","volume":"126","author":"CY Pak","year":"1981","unstructured":"Pak CY, McGuire J, Peterson R, Britton F, Harrod MJ (1981) Familial absorptive hypercalciuria in a large kindred. J Urol 126:717\u2013719","journal-title":"J Urol"},{"key":"807_CR34","doi-asserted-by":"crossref","first-page":"C1305","DOI":"10.1152\/ajpcell.00584.2004","volume":"288","author":"W Geng","year":"2005","unstructured":"Geng W, Wang Z, Zhang J, Reed BY, Pak CY, Moe OW (2005) Cloning and characterization of the human soluble adenylyl cyclase. Am J Physiol Cell Physiol 288:C1305\u20131316","journal-title":"Am J Physiol Cell Physiol"},{"key":"807_CR35","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1210\/jcem.87.4.8300","volume":"87","author":"BY Reed","year":"2002","unstructured":"Reed BY, Gitomer WL, Heller HJ, Hsu MC, Lemke M, Padalino P, Pak CY (2002) Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density. J Clin Endocrinol Metab 87:1476\u20131485","journal-title":"J Clin Endocrinol Metab"},{"key":"807_CR36","doi-asserted-by":"crossref","first-page":"4937","DOI":"10.1210\/jc.2004-0412","volume":"89","author":"MJ Favus","year":"2004","unstructured":"Favus MJ, Karnauskas AJ, Parks JH, Coe FL (2004) Peripheral blood monocyte vitamin D receptor levels are elevated in patients with idiopathic hypercalciuria. J Clin Endocrinol Metab 89:4937\u20134943","journal-title":"J Clin Endocrinol Metab"},{"key":"807_CR37","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1016\/S0889-8529(18)30362-1","volume":"18","author":"H Heath 3rd","year":"1989","unstructured":"Heath H 3rd (1989) Familial benign (hypocalciuric) hypercalcemia. A troublesome mimic of mild primary hyperparathyroidism. Endocrinol Metab Clin North Am 18:723\u2013740","journal-title":"Endocrinol Metab Clin North Am"},{"key":"807_CR38","first-page":"2042","volume":"85","author":"T Carling","year":"2000","unstructured":"Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J (2000) Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab 85:2042\u20132047","journal-title":"J Clin Endocrinol Metab"},{"key":"807_CR39","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1136\/jmg.2003.016725","volume":"41","author":"J Warner","year":"2004","unstructured":"Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J (2004) Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet 41:155\u2013160","journal-title":"J Med Genet"},{"key":"807_CR40","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1056\/NEJM199610103351505","volume":"335","author":"SH Pearce","year":"1996","unstructured":"Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV (1996) A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 335:1115\u20131122","journal-title":"N Engl J Med"},{"key":"807_CR41","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/ng1194-303","volume":"8","author":"MR Pollak","year":"1994","unstructured":"Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, Seidman CE, Seidman JG (1994) Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet 8:303\u2013307","journal-title":"Nat Genet"},{"key":"807_CR42","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1203\/00006450-199409000-00024","volume":"36","author":"DN Finegold","year":"1994","unstructured":"Finegold DN, Armitage MM, Galiani M, Matise TC, Pandian MR, Perry YM, Deka R, Ferrell RE (1994) Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13. Pediatr Res 36:414\u2013417","journal-title":"Pediatr Res"},{"key":"807_CR43","first-page":"A17","volume":"55","author":"Y Perry","year":"1994","unstructured":"Perry Y, Finegold D, Armitage M, Ferrell R (1994) A missense mutation in the Ca-sensing receptor causes familial autosomal dominant hypoparathyroidism. Am J Hum Genet 55:A17","journal-title":"Am J Hum Genet"},{"key":"807_CR44","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1093\/hmg\/5.5.601","volume":"5","author":"J Baron","year":"1996","unstructured":"Baron J, Winer KK, Yanovski JA, Cunningham AW, Laue L, Zimmerman D, Cutler GB (1996) Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet 5:601\u2013606","journal-title":"Hum Mol Genet"},{"key":"807_CR45","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1002\/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A","volume":"16","author":"GN Hendy","year":"2000","unstructured":"Hendy GN, D\u2019Souza-Li L, Yang B, Canaff L, Cole DE (2000) Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 16:281\u2013296","journal-title":"Hum Mutat"},{"key":"807_CR46","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1159\/000020689","volume":"8","author":"RV Thakker","year":"2000","unstructured":"Thakker RV (2000) Molecular pathology of renal chloride channels in Dent\u2019s disease and Bartter\u2019s syndrome. Exp Nephrol 8:351\u2013360","journal-title":"Exp Nephrol"},{"key":"807_CR47","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1097\/00041552-200309000-00008","volume":"12","author":"SC Hebert","year":"2003","unstructured":"Hebert SC (2003) Bartter syndrome. Curr Opin Nephrol Hypertens 12:527\u2013532","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"807_CR48","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/S0140-6736(02)09842-2","volume":"360","author":"S Watanabe","year":"2002","unstructured":"Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, Chikatsu N, Fujita T (2002) Association between activating mutations of calcium-sensing receptor and Bartter\u2019s syndrome. Lancet 360:692\u2013694","journal-title":"Lancet"},{"key":"807_CR49","doi-asserted-by":"crossref","first-page":"2259","DOI":"10.1097\/01.ASN.0000025781.16723.68","volume":"13","author":"R Vargas-Poussou","year":"2002","unstructured":"Vargas-Poussou R, Huang C, Hulin P, Houillier P, Jeunemaitre X, Paillard M, Planelles G, Dechaux M, Miller RT, Antignac C (2002) Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 13:2259\u20132266","journal-title":"J Am Soc Nephrol"},{"key":"807_CR50","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1093\/ndt\/gfh799","volume":"20","author":"N Besbas","year":"2005","unstructured":"Besbas N, Ozaltin F, Jeck N, Seyberth H, Ludwig M (2005) CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent\u2019s disease. Nephrol Dial Transplant 20:1476\u20131479","journal-title":"Nephrol Dial Transplant"},{"key":"807_CR51","first-page":"473","volume":"87","author":"OM Wrong","year":"1994","unstructured":"Wrong OM, Norden AG, Feest TG (1994) Dent\u2019s disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. QJM 87:473\u2013493","journal-title":"QJM"},{"key":"807_CR52","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/379445a0","volume":"379","author":"SE Lloyd","year":"1996","unstructured":"Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV (1996) A common molecular basis for three inherited kidney stone diseases. Nature 379:445\u2013449","journal-title":"Nature"},{"key":"807_CR53","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.conb.2005.05.002","volume":"15","author":"TJ Jentsch","year":"2005","unstructured":"Jentsch TJ, Neagoe I, Scheel O (2005) CLC chloride channels and transporters. Curr Opin Neurobiol 15:319\u2013325","journal-title":"Curr Opin Neurobiol"},{"key":"807_CR54","doi-asserted-by":"crossref","first-page":"8075","DOI":"10.1073\/pnas.95.14.8075","volume":"95","author":"W Gunther","year":"1998","unstructured":"Gunther W, Luchow A, Cluzeaud F, Vandewalle A, Jentsch TJ (1998) ClC-5, the chloride channel mutated in Dent\u2019s disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc Natl Acad Sci U\u00a0S\u00a0A 95:8075\u20138080","journal-title":"Proc Natl Acad Sci U\u00a0S\u00a0A"},{"key":"807_CR55","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1093\/hmg\/8.2.247","volume":"8","author":"O Devuyst","year":"1999","unstructured":"Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV (1999) Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent\u2019s disease. Hum Mol Genet 8:247\u2013257","journal-title":"Hum Mol Genet"},{"key":"807_CR56","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/35042597","volume":"408","author":"N Piwon","year":"2000","unstructured":"Piwon N, Gunther W, Schwake M, Bosl MR, Jentsch TJ (2000) ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent\u2019s disease. Nature 408:369\u2013373","journal-title":"Nature"},{"key":"807_CR57","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1007\/s00424-002-0950-6","volume":"445","author":"W Gunther","year":"2003","unstructured":"Gunther W, Piwon N, Jentsch TJ (2003) The ClC-5 chloride channel knock-out mouse\u2014an animal model for Dent\u2019s disease. Pflugers Arch 445:456\u2013462","journal-title":"Pflugers Arch"},{"key":"807_CR58","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1086\/427887","volume":"76","author":"RR Hoopes","year":"2005","unstructured":"Hoopes RR, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ (2005) Dent disease with mutations in OCRL1. Am J Hum Genet 76:260\u2013267","journal-title":"Am J Hum Genet"},{"key":"807_CR59","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1016\/S0022-5347(01)67575-X","volume":"153","author":"GA Sliman","year":"1995","unstructured":"Sliman GA, Winters WD, Shaw DW, Avner ED (1995) Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome. J Urol 153:1244\u20131246","journal-title":"J Urol"},{"key":"807_CR60","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1093\/hmg\/2.4.461","volume":"2","author":"AM Leahey","year":"1993","unstructured":"Leahey AM, Charnas LR, Nussbaum RL (1993) Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet 2:461\u2013463","journal-title":"Hum Mol Genet"},{"key":"807_CR61","doi-asserted-by":"crossref","first-page":"1574","DOI":"10.1074\/jbc.273.3.1574","volume":"273","author":"X Zhang","year":"1998","unstructured":"Zhang X, Hartz PA, Philip E, Racusen LC, Majerus PW (1998) Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. J Biol Chem 273:1574\u20131582","journal-title":"J Biol Chem"},{"key":"807_CR62","doi-asserted-by":"crossref","first-page":"13342","DOI":"10.1073\/pnas.96.23.13342","volume":"96","author":"AJ Ungewickell","year":"1999","unstructured":"Ungewickell AJ, Majerus PW (1999) Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome. Proc Natl Acad Sci U\u00a0S\u00a0A 96:13342\u201313344","journal-title":"Proc Natl Acad Sci U\u00a0S\u00a0A"},{"key":"807_CR63","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1111\/j.1600-0854.2005.00311.x","volume":"6","author":"M Lowe","year":"2005","unstructured":"Lowe M (2005) Structure and function of the Lowe syndrome protein OCRL1. Traffic 6:711\u2013719","journal-title":"Traffic"},{"key":"807_CR64","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1056\/NEJMoa020028","volume":"347","author":"D Prie","year":"2002","unstructured":"Prie D, Huart V, Bakouh N, Planelles G, Dellis O, Gerard B, Hulin P, Benque-Blanchet F, Silve C, Grandchamp B, Friedlander G (2002) Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med 347:983\u2013991","journal-title":"N Engl J Med"},{"key":"807_CR65","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.1359\/jbmr.2003.18.12.2135","volume":"18","author":"LV Virkki","year":"2003","unstructured":"Virkki LV, Forster IC, Hernando N, Biber J, Murer H (2003) Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa. J Bone Miner Res 18:2135\u20132141","journal-title":"J Bone Miner Res"},{"key":"807_CR66","doi-asserted-by":"crossref","first-page":"5372","DOI":"10.1073\/pnas.95.9.5372","volume":"95","author":"L Beck","year":"1998","unstructured":"Beck L, Karaplis AC, Amizuka N, Hewson AS, Ozawa H, Tenenhouse HS (1998) Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Proc Natl Acad Sci U\u00a0S\u00a0A 95:5372\u20135377","journal-title":"Proc Natl Acad Sci U\u00a0S\u00a0A"},{"key":"807_CR67","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1056\/NEJM198503073121003","volume":"312","author":"M Tieder","year":"1985","unstructured":"Tieder M, Modai D, Samuel R, Arie R, Halabe A, Bab I, Gabizon D, Liberman UA (1985) Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 312:611\u2013617","journal-title":"N Engl J Med"},{"key":"807_CR68","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1681\/ASN.V123507","volume":"12","author":"A Jones","year":"2001","unstructured":"Jones A, Tzenova J, Frappier D, Crumley M, Roslin N, Kos C, Tieder M, Langman C, Proesmans W, Carpenter T, Rice A, Anderson D, Morgan K, Fujiwara T, Tenenhouse H (2001) Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na\/Pi cotransporter NPT2 gene. J Am Soc Nephrol 12:507\u2013514","journal-title":"J Am Soc Nephrol"},{"key":"807_CR69","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1086\/499409","volume":"78","author":"C Bergwitz","year":"2006","unstructured":"Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H (2006) SLC34A3 Mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet 78:179\u2013192","journal-title":"Am J Hum Genet"},{"key":"807_CR70","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1086\/499410","volume":"78","author":"B Lorenz-Depiereux","year":"2006","unstructured":"Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM (2006) Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 78:193\u2013201","journal-title":"Am J Hum Genet"},{"key":"807_CR71","first-page":"385","volume":"41","author":"L Paunier","year":"1968","unstructured":"Paunier L, Radde IC, Kooh SW, Conen PE, Fraser D (1968) Primary hypomagnesemia with secondary hypocalcemia in an infant. Pediatrics 41:385\u2013402","journal-title":"Pediatrics"},{"key":"807_CR72","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1126\/science.285.5424.103","volume":"285","author":"DB Simon","year":"1999","unstructured":"Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP (1999) Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 285:103\u2013106","journal-title":"Science"},{"key":"807_CR73","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1681\/ASN.V1291872","volume":"12","author":"S Weber","year":"2001","unstructured":"Weber S, Schneider L, Peters M, Misselwitz J, Ronnefarth G, Boswald M, Bonzel KE, Seeman T, Sulakova T, Kuwertz-Broking E, Gregoric A, Palcoux JB, Tasic V, Manz F, Scharer K, Seyberth HW, Konrad M (2001) Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 12:1872\u20131881","journal-title":"J Am Soc Nephrol"},{"key":"807_CR74","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1086\/380418","volume":"73","author":"D Muller","year":"2003","unstructured":"Muller D, Kausalya PJ, Claverie-Martin F, Meij IC, Eggert P, Garcia-Nieto V, Hunziker W (2003) A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. Am J Hum Genet 73:1293\u20131301","journal-title":"Am J Hum Genet"},{"key":"807_CR75","doi-asserted-by":"crossref","first-page":"C142","DOI":"10.1152\/ajpcell.00038.2002","volume":"283","author":"OR Colegio","year":"2002","unstructured":"Colegio OR, Van Itallie CM, McCrea HJ, Rahner C, Anderson JM (2002) Claudins create charge-selective channels in the paracellular pathway between epithelial cells. Am J Physiol Cell Physiol 283:C142\u2013C147","journal-title":"Am J Physiol Cell Physiol"},{"key":"807_CR76","doi-asserted-by":"crossref","first-page":"F599","DOI":"10.1152\/ajprenal.00312.2003","volume":"286","author":"M Konrad","year":"2004","unstructured":"Konrad M, Schlingmann KP, Gudermann T (2004) Insights into the molecular nature of magnesium homeostasis. Am J Physiol Renal Physiol 286:F599\u2013F605","journal-title":"Am J Physiol Renal Physiol"},{"key":"807_CR77","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1086\/508617","volume":"79","author":"M Konrad","year":"2006","unstructured":"Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg P, Weber S (2006) Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet 79:949\u2013957","journal-title":"Am J Hum Genet"},{"key":"807_CR78","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/S0074-7696(08)60674-9","volume":"123","author":"RR Kopito","year":"1990","unstructured":"Kopito RR (1990) Molecular biology of the anion exchanger gene family. Int Rev Cytol 123:177\u2013199","journal-title":"Int Rev Cytol"},{"key":"807_CR79","first-page":"34","volume":"30","author":"MJ Tanner","year":"1993","unstructured":"Tanner MJ (1993) Molecular and cellular biology of the erythrocyte anion exchanger (AE1). Semin Hematol 30:34\u201357","journal-title":"Semin Hematol"},{"key":"807_CR80","first-page":"F213","volume":"253","author":"S Wagner","year":"1987","unstructured":"Wagner S, Vogel R, Lietzke R, Koob R, Drenckhahn D (1987) Immunochemical characterization of a band 3-like anion exchanger in collecting duct of human kidney. Am J Physiol 253:F213\u2013221","journal-title":"Am J Physiol"},{"key":"807_CR81","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.1172\/JCI119694","volume":"100","author":"LJ Bruce","year":"1997","unstructured":"Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, Unwin RJ, Wrong O, Tanner MJ (1997) Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J Clin Invest 100:1693\u20131707","journal-title":"J Clin Invest"},{"issue":"Pt 1","key":"807_CR82","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1042\/bj3500041","volume":"350","author":"LJ Bruce","year":"2000","unstructured":"Bruce LJ, Wrong O, Toye AM, Young MT, Ogle G, Ismail Z, Sinha AK, McMaster P, Hwaihwanje I, Nash GB, Hart S, Lavu E, Palmer R, Othman A, Unwin RJ, Tanner MJ (2000) Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells. Biochem J 350(Pt 1):41\u201351","journal-title":"Biochem J"},{"key":"807_CR83","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1042\/bss0720047","volume":"72","author":"AM Toye","year":"2005","unstructured":"Toye AM (2005) Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA). Biochem Soc Symp 72:47\u201363","journal-title":"Biochem Soc Symp"},{"key":"807_CR84","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1046\/j.1523-1755.2002.00417.x","volume":"62","author":"O Wrong","year":"2002","unstructured":"Wrong O, Bruce LJ, Unwin RJ, Toye AM, Tanner MJ (2002) Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis. Kidney Int 62:10\u201319","journal-title":"Kidney Int"},{"key":"807_CR85","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1038\/5022","volume":"21","author":"FE Karet","year":"1999","unstructured":"Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP (1999) Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 21:84\u201390","journal-title":"Nat Genet"},{"key":"807_CR86","doi-asserted-by":"crossref","first-page":"3541","DOI":"10.1073\/pnas.89.8.3541","volume":"89","author":"RD Nelson","year":"1992","unstructured":"Nelson RD, Guo XL, Masood K, Brown D, Kalkbrenner M, Gluck S (1992) Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells. Proc Natl Acad Sci U\u00a0S\u00a0A 89:3541\u20133545","journal-title":"Proc Natl Acad Sci U\u00a0S\u00a0A"},{"key":"807_CR87","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0378-5955(97)00072-5","volume":"114","author":"KM Stankovic","year":"1997","unstructured":"Stankovic KM, Brown D, Alper SL, Adams JC (1997) Localization of pH regulating proteins H+ATPase and Cl-\/HCO3- exchanger in the guinea pig inner ear. Hear Res 114:21\u201334","journal-title":"Hear Res"},{"key":"807_CR88","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/79208","volume":"26","author":"AN Smith","year":"2000","unstructured":"Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE (2000) Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 26:71\u201375","journal-title":"Nat Genet"},{"key":"807_CR89","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1136\/jmg.39.11.796","volume":"39","author":"EH Stover","year":"2002","unstructured":"Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE (2002) Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet 39:796\u2013803","journal-title":"J Med Genet"},{"key":"807_CR90","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1038\/ng0696-183","volume":"13","author":"DB Simon","year":"1996","unstructured":"Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP (1996) Bartter\u2019s syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13:183\u2013188","journal-title":"Nat Genet"},{"key":"807_CR91","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/ng1096-152","volume":"14","author":"DB Simon","year":"1996","unstructured":"Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP (1996) Genetic heterogeneity of Bartter\u2019s syndrome revealed by mutations in the K\u00a0+\u00a0channel, ROMK. Nat Genet 14:152\u2013156","journal-title":"Nat Genet"},{"key":"807_CR92","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1046\/j.1523-1755.2003.00730.x","volume":"63","author":"I Zelikovic","year":"2003","unstructured":"Zelikovic I, Szargel R, Hawash A, Labay V, Hatib I, Cohen N, Nakhoul F (2003) A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int 63:24\u201332","journal-title":"Kidney Int"},{"key":"807_CR93","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1038\/35107099","volume":"414","author":"R Estevez","year":"2001","unstructured":"Estevez R, Boettger T, Stein V, Birkenhager R, Otto E, Hildebrandt F, Jentsch TJ (2001) Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature 414:558\u2013561","journal-title":"Nature"},{"key":"807_CR94","doi-asserted-by":"crossref","first-page":"4583","DOI":"10.1210\/jcem.85.12.7035","volume":"85","author":"M Yamamoto","year":"2000","unstructured":"Yamamoto M, Akatsu T, Nagase T, Ogata E (2000) Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders? J Clin Endocrinol Metab 85:4583\u20134591","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-0807-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-008-0807-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-0807-0.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-0807-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T23:46:13Z","timestamp":1684367173000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-008-0807-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4,30]]},"references-count":94,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["807"],"URL":"https:\/\/doi.org\/10.1007\/s00467-008-0807-0","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,4,30]]},"assertion":[{"value":"14 December 2007","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 February 2008","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 February 2008","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 April 2008","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}