{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:40:25Z","timestamp":1791286825284,"version":"4.1.0"},"reference-count":702,"publisher":"Archives of Pathology and Laboratory Medicine","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,4]]},"abstract":"Abstract<\/jats:title>\n \n Context.<\/jats:italic>\n \u2014Glomerular cysts, defined as Bowman space dilatation greater than 2 to 3 times normal size, are found in disorders of diverse etiology and with a spectrum of clinical manifestations. The term\n glomerulocystic kidney<\/jats:italic>\n (GCK) refers to a kidney with greater than 5% cystic glomeruli. Although usually a disease of the young, GCK also occurs in adults.\n <\/jats:p>\n \n Objective.<\/jats:italic>\n \u2014To assess the recent molecular genetics of GCK, review our files, revisit the literature, and perform in silico experiments.\n <\/jats:p>\n \n Data Sources.<\/jats:italic>\n \u2014We retrieved 20 cases from our files and identified more than 230 cases published in the literature under several designations.\n <\/jats:p>\n \n Conclusions.<\/jats:italic>\n \u2014Although GCK is at least in part a variant of autosomal dominant or recessive polycystic kidney disease (PKD), linkage analysis has excluded PKD-associated gene mutations in many cases of GCK. A subtype of familial GCK, presenting with cystic kidneys, hyperuricemia, and isosthenuria is due to uromodullin mutations. In addition, the familial hypoplastic variant of GCK that is associated with diabetes is caused by mutations in\n TCF2<\/jats:italic>\n , the gene encoding hepatocyte nuclear factor\u20131\u03b2. The term\n GCK disease<\/jats:italic>\n (GCKD) should be reserved for the latter molecularly recognized\/inherited subtypes of GCK (not to include PKD). Review of our cases, the literature, and our in silico analysis of the overlapping genetic entities integrates established molecular-genetic functions into a proposed model of\n glomerulocystogenesis<\/jats:italic>\n ; a classification scheme emerged that (1) emphasizes the clinical significance of glomerular cysts, (2) provides a pertinent differential diagnosis, and (3) suggests screening for probable mutations.\n <\/jats:p>","DOI":"10.5858\/134.4.583","type":"journal-article","created":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T12:15:18Z","timestamp":1613132118000},"page":"583-605","source":"Crossref","is-referenced-by-count":43,"title":["Glomerulocystic Kidney: One Hundred\u2013Year Perspective"],"prefix":"10.5858","volume":"134","author":[{"given":"Jochen K.","family":"Lennerz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David C.","family":"Spence","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samy S.","family":"Iskandar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis P.","family":"Dehner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Liapis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3906","reference":[{"key":"i1543-2165-134-4-583-b01","series-title":"Am J Dis Child","first-page":"61(1):116","article-title":"Polycystic kidney.","author":"Roos, A","year":"1941","unstructured":"Roos, A\n \n Polycystic kidney.\n Am J Dis Child\n 1941. 61(1):116\u2013127."},{"key":"i1543-2165-134-4-583-b02","series-title":"Verhandl.d.deutsch.path.Gesellsch","first-page":"187","article-title":"Ueber die Entwicklung der bleibenden Niere und uber die Entstehung der Cystenniere.","volume":"2","author":"Ribbert, H","year":"1889","unstructured":"Ribbert, H\n \n Ueber die Entwicklung der bleibenden Niere und uber die Entstehung der Cystenniere.\n Verhandl.d.deutsch.path.Gesellsch\n 1889. 2:187\u2013201."},{"key":"i1543-2165-134-4-583-b03","series-title":"Lehrbuch der speciellen pathologischen Anatomie","author":"Ziegler, E","year":"1902","unstructured":"Ziegler, E\n \n Lehrbuch der speciellen pathologischen Anatomie. 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Mutations in the hepatocyte nuclear factor-1 alpha gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese.J Hum Genet1998. 43:107\u2013110."},{"issue":"3","key":"i1543-2165-134-4-583-b112","series-title":"Diabetologia","first-page":"387","article-title":"Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus.","volume":"44","author":"Iwasaki, N","year":"2001","unstructured":"Iwasaki, N, IOkabe, MYMomoi, HOhashi, MOgata, and YIwamoto. Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus.Diabetologia2001. 44 (3):387\u2013388."},{"key":"i1543-2165-134-4-583-b113","series-title":"J Am Soc Nephrol","first-page":"2175","article-title":"Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development.","volume":"12","author":"Kolatsi-Joannou, M","year":"2001","unstructured":"Kolatsi-Joannou, M, CBingham, SEllard, et al. 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Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.Z Kinderheilkd1974. 116:73\u201394."},{"key":"i1543-2165-134-4-583-b285","series-title":"Nephrology","first-page":"909","article-title":"Renal involvement in genetic-hereditary malformation syndromes.","author":"Gilbert, E","year":"1979","unstructured":"Gilbert, E and JMOpitz. Renal involvement in genetic-hereditary malformation syndromes.In:Hamburger, J, JCrosnier, and JPGr\u00fcnfeld. Nephrology. New York, NYJohn Wiley and Sons. 1979. 909\u2013944."},{"key":"i1543-2165-134-4-583-b286","series-title":"J Med Genet","first-page":"107","article-title":"Asphyxiating thoracic chondrodystrophy: association with renal disease and evidence for possile heterozygous expression.","volume":"8","author":"Shokeir, MH","year":"1971","unstructured":"Shokeir, MH, CSHouston, and CFAwen. 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Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.Arch Dis Child1985. 60:426\u2013434."},{"key":"i1543-2165-134-4-583-b289","series-title":"Am J Dis Child","first-page":"502","article-title":"Congenital malformations in autosomal trisomy syndromes.","volume":"112","author":"Warkany, J","year":"1966","unstructured":"Warkany, J, EPassarge, and LBSmith. Congenital malformations in autosomal trisomy syndromes.Am J Dis Child1966. 112:502\u2013517."},{"key":"i1543-2165-134-4-583-b290","series-title":"J Pathol Bacteriol","first-page":"233","article-title":"Cystic dysplasia of the kidneys studied by micro-dissection in a case of 13\u201315 trisomy.","volume":"89","author":"Bartman, J","year":"1965","unstructured":"Bartman, J and GBarraclough. Cystic dysplasia of the kidneys studied by micro-dissection in a case of 13\u201315 trisomy.J Pathol Bacteriol1965. 89:233\u2013238."},{"key":"i1543-2165-134-4-583-b291","series-title":"Pediatr Dev Pathol","first-page":"121","article-title":"OEIS complex with glomerulocystic kidney disease: a case report.","volume":"10","author":"Hong, R","year":"2007","unstructured":"Hong, R, SCLim, JWJang, et al. OEIS complex with glomerulocystic kidney disease: a case report.Pediatr Dev Pathol2007. 10:121\u2013124."},{"key":"i1543-2165-134-4-583-b292","series-title":"Diabetologia","first-page":"153","article-title":"A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.","volume":"45","author":"Carbone, I","year":"2002","unstructured":"Carbone, I, MCotellessa, CBarella, et al. A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.Diabetologia2002. 45:153\u2013154."},{"key":"i1543-2165-134-4-583-b293","series-title":"Pathol Annu","first-page":"213","article-title":"Developmental abnormalities of the renal parenchyma \u2014renal hypoplasia and dysplasia.","volume":"3","author":"Bernstein, J","year":"1968","unstructured":"Bernstein, J\n \n Developmental abnormalities of the renal parenchyma \u2014renal hypoplasia and dysplasia.\n Pathol Annu\n 1968. 3:213\u2013247."},{"key":"i1543-2165-134-4-583-b294","series-title":"Clin Nephrol","first-page":"83","article-title":"Bilateral renal dysplasia in three siblings: report of a survivor.","volume":"5","author":"Cole, BR","year":"1976","unstructured":"Cole, BR, RLKaufman, WHMcAlister, and JMKissane. Bilateral renal dysplasia in three siblings: report of a survivor.Clin Nephrol1976. 5:83\u201387."},{"key":"i1543-2165-134-4-583-b295","series-title":"Am J Med Genet","first-page":"67","article-title":"Spectrum of anomalies in the Meckel syndrome, or: \u201cmaybe there is a malformation syndrome with at least one constant anomaly\u201d.","volume":"9","author":"Fraser, FC","year":"1981","unstructured":"Fraser, FC and ALytwyn. Spectrum of anomalies in the Meckel syndrome, or: \u201cmaybe there is a malformation syndrome with at least one constant anomaly\u201d.Am J Med Genet1981. 9:67\u201373."},{"key":"i1543-2165-134-4-583-b296","series-title":"Am J Dis Child","first-page":"484","article-title":"Neonatal polycystic kidney with brain defect.","volume":"106","author":"Goldston, AS","year":"1963","unstructured":"Goldston, AS, ECBurke, AAD, WTMcCaughey, and WTMaccaughey. Neonatal polycystic kidney with brain defect.Am J Dis Child1963. 106:484\u2013488."},{"key":"i1543-2165-134-4-583-b297","series-title":"J Med Genet","first-page":"112","article-title":"Necropsy findings in neonatal asphyxiating thoracic dystrophy.","volume":"22","author":"Turkel, SB","year":"1985","unstructured":"Turkel, SB, EJDiehl, and JARichmond. Necropsy findings in neonatal asphyxiating thoracic dystrophy.J Med Genet1985. 22:112\u2013118."},{"key":"i1543-2165-134-4-583-b298","series-title":"Pediatr Radiol","first-page":"469","article-title":"Prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type.","volume":"25","author":"Montemarano, H","year":"1995","unstructured":"Montemarano, H, DIBulas, RChandra, and CTifft. Prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type.Pediatr Radiol1995. 25:469\u2013471."},{"key":"i1543-2165-134-4-583-b299","series-title":"Am J Med Genet","first-page":"332","article-title":"Diffuse cystic renal dysplasia: nonsyndromal familial case.","volume":"63","author":"Sase, M","year":"1996","unstructured":"Sase, M, MTsukahara, AOga, et al. Diffuse cystic renal dysplasia: nonsyndromal familial case.Am J Med Genet1996. 63:332\u2013334."},{"key":"i1543-2165-134-4-583-b300","series-title":"J Pediatr","first-page":"617","article-title":"A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings.","volume":"67","author":"Smith, DW","year":"1965","unstructured":"Smith, DW, JMOpitz, and SLInhorn. A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings.J Pediatr1965. 67:617\u2013624."},{"key":"i1543-2165-134-4-583-b301","series-title":"Eur J Pediatr","first-page":"60","article-title":"Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers, II: morphology and pathogenesis.","volume":"139","author":"Bohm, N","year":"1982","unstructured":"Bohm, N, JUy, MKiessling, and WLehnert. Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers, II: morphology and pathogenesis.Eur J Pediatr1982. 139:60\u201365."},{"key":"i1543-2165-134-4-583-b302","series-title":"Birth Defects Orig Artic Ser","first-page":"117","article-title":"Short rib-polydactyly syndromes and related conditions.","volume":"10","author":"Spranger, J","year":"1974","unstructured":"Spranger, J, LOLanger, MHWeller, and JHerrmann. Short rib-polydactyly syndromes and related conditions.Birth Defects Orig Artic Ser1974. 10:117\u2013123."},{"key":"i1543-2165-134-4-583-b303","series-title":"Pediatr Pathol","first-page":"457","article-title":"Short rib-polydactyly syndrome type II (Majewski syndrome): a case report.","volume":"2","author":"McCormac, RM","year":"1984","unstructured":"McCormac, RM, DBFlannery, INakoneczna, and MBKodroff. Short rib-polydactyly syndrome type II (Majewski syndrome): a case report.Pediatr Pathol1984. 2:457\u2013467."},{"key":"i1543-2165-134-4-583-b304","series-title":"Birth Defects Orig Artic Ser","first-page":"53","article-title":"Acrocephalopolydactylous dysplasia.","volume":"13","author":"Elejalde, BR","year":"1977","unstructured":"Elejalde, BR, CGiraldo, RJimenez, and EFGilbert. Acrocephalopolydactylous dysplasia.Birth Defects Orig Artic Ser1977. 13:53\u201367."},{"issue":"2","key":"i1543-2165-134-4-583-b305","series-title":"Am J Dis Child","first-page":"193","article-title":"The thoracic asphyxiant dystrophy and renal disease.","volume":"116","author":"Herdman, RC","year":"1968","unstructured":"Herdman, RC and LOLanger. The thoracic asphyxiant dystrophy and renal disease.Am J Dis Child1968. 116 (2):193\u2013201."},{"key":"i1543-2165-134-4-583-b306","series-title":"Am J Med Genet Suppl","first-page":"191","article-title":"Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study.","volume":"3","author":"Yang, SS","year":"1987","unstructured":"Yang, SS, LOLangerJr, ACacciarelli, et al. Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study.Am J Med Genet Suppl1987. 3:191\u2013207."},{"key":"i1543-2165-134-4-583-b307","series-title":"Birth Defects Orig Artic Ser","first-page":"139","article-title":"Trisomy C and cystic dysplasia of kidneys, liver and pancreas.","volume":"12","author":"Blair, JD","year":"1976","unstructured":"Blair, JD\n \n Trisomy C and cystic dysplasia of kidneys, liver and pancreas.\n Birth Defects Orig Artic Ser\n 1976. 12:139\u2013149."},{"key":"i1543-2165-134-4-583-b308","series-title":"Am J Dis Child","first-page":"1356","article-title":"Severe renal dysgenesis produced by a dominant gene.","volume":"130","author":"Fitch, N","year":"1976","unstructured":"Fitch, N and HSrolovitz. Severe renal dysgenesis produced by a dominant gene.Am J Dis Child1976. 130:1356\u20131357."},{"key":"i1543-2165-134-4-583-b309","series-title":"Clin Genet","first-page":"25","article-title":"Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes.","volume":"9","author":"Melnick, M","year":"1976","unstructured":"Melnick, M, DBixler, WENance, KSilk, and HYune. Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes.Clin Genet1976. 9:25\u201334."},{"issue":"2","key":"i1543-2165-134-4-583-b310","series-title":"Pathologica","first-page":"131","article-title":"Glomerulocystic kidney in advanced hemolytic-uremic syndrome [in Italian].","volume":"92","author":"Boldrini, R","year":"2000","unstructured":"Boldrini, R, PFrancalanci, AOnetti Muda, FEmma, and CBosman. Glomerulocystic kidney in advanced hemolytic-uremic syndrome [in Italian].Pathologica2000. 92 (2):131."},{"issue":"5","key":"i1543-2165-134-4-583-b311","series-title":"Nefrologia","first-page":"459","article-title":"Glomerulocystic kidney disease and hemolytic-uremic syndrome: clinicopathological case [in Spanish].","volume":"20","author":"Vera-Sempere, F","year":"2000","unstructured":"Vera-Sempere, F, IZamora, and JMSim\u00f3n. Glomerulocystic kidney disease and hemolytic-uremic syndrome: clinicopathological case [in Spanish].Nefrologia2000. 20 (5):459\u2013463."},{"key":"i1543-2165-134-4-583-b312","series-title":"Pediatr Nephrol","first-page":"557","article-title":"Acquired glomerulocystic kidney disease following hemolytic uremic syndrome.","volume":"16","author":"Emma, F","year":"2001","unstructured":"Emma, F, AOMuda, SRinaldi, RBoldrini, CBosman, and GRizzoni. Acquired glomerulocystic kidney disease following hemolytic uremic syndrome.Pediatr Nephrol2001. 16:557\u2013560."},{"key":"i1543-2165-134-4-583-b313","series-title":"Pathology of the Kidney","first-page":"907","article-title":"Hemolytic uremia syndrome, thrombotic thrombocytopenic purpura and systemic scleroderma.","author":"Heptinstall, R","year":"1983","unstructured":"Heptinstall, R\n \n Hemolytic uremia syndrome, thrombotic thrombocytopenic purpura and systemic scleroderma.\n In:\n \n \n Heptinstall, R\n \n Pathology of the Kidney. New York, NYLittle, Brown and Company. 1983. 907\u2013961."},{"key":"i1543-2165-134-4-583-b314","series-title":"Nephrol Dial Transplant","first-page":"888","article-title":"Glomerulocystic kidney disease associated with Wegener's granulomatosis and membranous glomerulonephritis: a case report.","volume":"10","author":"Crowe, AV","year":"1995","unstructured":"Crowe, AV, RGWoolfson, MHGriffiths, and GHNeild. Glomerulocystic kidney disease associated with Wegener's granulomatosis and membranous glomerulonephritis: a case report.Nephrol Dial Transplant1995. 10:888\u2013890."},{"key":"i1543-2165-134-4-583-b315","series-title":"Nephron","first-page":"273","article-title":"Hepatoblastoma with glomerulocystic disease\u2014a mere coincidence or an association?","volume":"54","author":"Bhaskar, KV","year":"1990","unstructured":"Bhaskar, KV, KJoshi, and CKBanerjee. Hepatoblastoma with glomerulocystic disease\u2014a mere coincidence or an association?Nephron1990. 54:273\u2013274."},{"key":"i1543-2165-134-4-583-b316","series-title":"Pediatr Radiol","first-page":"703","article-title":"Glomerulocystic disease with hepatoblastoma in a neonate: a case report.","volume":"28","author":"Greer, ML","year":"1998","unstructured":"Greer, ML, JDanin, and ACLamont. Glomerulocystic disease with hepatoblastoma in a neonate: a case report.Pediatr Radiol1998. 28:703\u2013705."},{"key":"i1543-2165-134-4-583-b317","series-title":"Q J Med","first-page":"221","article-title":"Congenital hepatic fibrosis and nephronophthisis: a family study.","volume":"42","author":"Boichis, H","year":"1973","unstructured":"Boichis, H, JPasswell, RDavid, and HMiller. Congenital hepatic fibrosis and nephronophthisis: a family study.Q J Med1973. 42:221\u2013233."},{"key":"i1543-2165-134-4-583-b318","series-title":"J Pediatr Endocrinol Metab","first-page":"315","article-title":"Congenital hypothyroidism in association with Caroli's disease and autosomal recessive polycystic kidney disease: patient report.","volume":"18","author":"Jeha, GS","year":"2005","unstructured":"Jeha, GS, NTatevian, and RAHeptulla. Congenital hypothyroidism in association with Caroli's disease and autosomal recessive polycystic kidney disease: patient report.J Pediatr Endocrinol Metab2005. 18:315\u2013318."},{"key":"i1543-2165-134-4-583-b319","series-title":"Kidney Int","first-page":"1243","article-title":"Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.","volume":"61","author":"Bingham, C","year":"2002","unstructured":"Bingham, C, SEllard, TRCole, et al. Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.Kidney Int2002. 61:1243\u20131251."},{"key":"i1543-2165-134-4-583-b320","series-title":"J Med Genet","first-page":"257","article-title":"Polycystic disease of kidney and liver presenting in childhood.","volume":"8","author":"Blyth, H","year":"1971","unstructured":"Blyth, H and BGOckenden. Polycystic disease of kidney and liver presenting in childhood.J Med Genet1971. 8:257\u2013284."},{"key":"i1543-2165-134-4-583-b321","series-title":"Indian Pediatr","first-page":"434","article-title":"Glomerulocystic disease.","volume":"43","author":"Vijayakumar, M","year":"2006","unstructured":"Vijayakumar, M, NPrahlad, and BRNammalwar. Glomerulocystic disease.Indian Pediatr2006. 43:434\u2013437."},{"key":"i1543-2165-134-4-583-b322","series-title":"Lab Invest","first-page":"475","article-title":"Atypical cysts, acquired renal cystic disease, and renal cell tumors in end stage dialysis kidneys.","volume":"42","author":"Hughson, MD","year":"1980","unstructured":"Hughson, MD, GRHennigar, and JFMcManus. Atypical cysts, acquired renal cystic disease, and renal cell tumors in end stage dialysis kidneys.Lab Invest1980. 42:475\u2013480."},{"key":"i1543-2165-134-4-583-b323","series-title":"Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi","first-page":"205","article-title":"Renal tubular acidosis in childhood.","volume":"31","author":"Tsau, YK","year":"1990","unstructured":"Tsau, YK, CHChen, WSTsai, and YMChiou. Renal tubular acidosis in childhood.Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi1990. 31:205\u2013213."},{"key":"i1543-2165-134-4-583-b324","series-title":"Arch Fr Pediatr","first-page":"249","article-title":"Bilateral renal hypoplasia with oligonephronia: (study of 21 cases) [in French].","volume":"24","author":"Royer, P","year":"1967","unstructured":"Royer, P, RHabib, VCourtecuisse, and FLeclerc. Bilateral renal hypoplasia with oligonephronia: (study of 21 cases) [in French].Arch Fr Pediatr1967. 24:249\u2013268."},{"key":"i1543-2165-134-4-583-b325","series-title":"Kidney Int","first-page":"1645","article-title":"Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.","volume":"63","author":"Bingham, C","year":"2003","unstructured":"Bingham, C, SEllard, WGvan't Hoff, et al. Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.Kidney Int2003. 63:1645\u20131651."},{"key":"i1543-2165-134-4-583-b326","series-title":"Am J Perinatol","first-page":"379","article-title":"Polyhydramnios-oligohydramnios in a twin pregnancy complicated by fetal glomerulocystic kidney disease.","volume":"12","author":"Watson, WJ","year":"1995","unstructured":"Watson, WJ, DPMunson, DWOhrt, GCarlson, and RBRhodes. Polyhydramnios-oligohydramnios in a twin pregnancy complicated by fetal glomerulocystic kidney disease.Am J Perinatol1995. 12:379\u2013381."},{"key":"i1543-2165-134-4-583-b327","series-title":"Am J Kidney Dis","first-page":"E14","article-title":"Glomerulocystic kidney associated with subacute necrotizing-encephalomyelopathy.","volume":"37","author":"Yamakawa, T","year":"2001","unstructured":"Yamakawa, T, FYoshida, TKumagai, et al. Glomerulocystic kidney associated with subacute necrotizing-encephalomyelopathy.Am J Kidney Dis2001. 37:E14."},{"key":"i1543-2165-134-4-583-b328","series-title":"Nippon Jinzo Gakkai Shi","first-page":"65","article-title":"Glomerulocystic kidney: report of two autopsy cases [in Japanese].","volume":"32","author":"Monma, N","year":"1990","unstructured":"Monma, N, ATashiro, and TUjie. Glomerulocystic kidney: report of two autopsy cases [in Japanese].Nippon Jinzo Gakkai Shi1990. 32:65\u201370."},{"key":"i1543-2165-134-4-583-b329","series-title":"N Engl J Med","first-page":"1073","article-title":"Studies of a family with the oral-facial-digital syndrome.","volume":"271","author":"Doege, TC","year":"1964","unstructured":"Doege, TC, HCThuline, JHPriest, DENorby, and JSBryant. Studies of a family with the oral-facial-digital syndrome.N Engl J Med1964. 271:1073\u20131078."},{"key":"i1543-2165-134-4-583-b330","series-title":"Clin Genet","first-page":"183","article-title":"Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I.","volume":"9","author":"Harrod, MJ","year":"1976","unstructured":"Harrod, MJ, JStokes, LFPeede, and JLGoldstein. Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I.Clin Genet1976. 9:183\u2013186."},{"issue":"12","key":"i1543-2165-134-4-583-b331","series-title":"J Urol Nephrol (Paris)","first-page":"892","article-title":"2 cases of polycystic kidney in adults associated with the oral-facial-digital syndrome (proceedings) [in French].","volume":"84","author":"M\u00e9ry, JP","year":"1978","unstructured":"M\u00e9ry, JP, PSimon, HHouitte, TTanquerel, RToulet, and AKanfer. 2 cases of polycystic kidney in adults associated with the oral-facial-digital syndrome (proceedings) [in French].J Urol Nephrol (Paris)1978. 84 (12):892\u2013893."},{"key":"i1543-2165-134-4-583-b332","series-title":"Hum Genet","first-page":"269","article-title":"Short rib-polydactyly syndrome, Majewski type, in two male siblings.","volume":"49","author":"Motegi, T","year":"1979","unstructured":"Motegi, T, MKusunoki, TNishi, et al. Short rib-polydactyly syndrome, Majewski type, in two male siblings.Hum Genet1979. 49:269\u2013275."},{"key":"i1543-2165-134-4-583-b333","series-title":"Birth Defects Orig Artic Ser","first-page":"35","article-title":"The renal lesion in syndromes of multiple congenital malformations: cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome.","volume":"10","author":"Bernstein, J","year":"1974","unstructured":"Bernstein, J, AJBrough, and AJMcAdams. The renal lesion in syndromes of multiple congenital malformations: cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome.Birth Defects Orig Artic Ser1974. 10:35\u201343."},{"key":"i1543-2165-134-4-583-b334","series-title":"Eur J Pediatr","first-page":"99","article-title":"Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of Zellweger\u2014comparative pathology.","volume":"121","author":"Gilchrist, KW","year":"1976","unstructured":"Gilchrist, KW, EFGilbert, SGoldfarb, UGoll, JWSpranger, and JMOpitz. Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of Zellweger\u2014comparative pathology.Eur J Pediatr1976. 121:99\u2013118."},{"key":"i1543-2165-134-4-583-b335","series-title":"Birth Defects Orig Artic Ser","first-page":"144","article-title":"The Zellweger syndrome cerebrohepatorenal syndrome.","volume":"5","author":"Opitz, JM","year":"1969","unstructured":"Opitz, JM\n \n The Zellweger syndrome cerebrohepatorenal syndrome.\n Birth Defects Orig Artic Ser\n 1969. 5:144\u2013158."},{"key":"i1543-2165-134-4-583-b336","series-title":"J Pediatr","first-page":"691","article-title":"Cerebro-hepato-renal syndrome: a newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys.","volume":"71","author":"Passarge, E","year":"1967","unstructured":"Passarge, E and AJMcAdams. Cerebro-hepato-renal syndrome: a newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys.J Pediatr1967. 71:691\u2013702."},{"key":"i1543-2165-134-4-583-b337","series-title":"Am J Roentgenol Radium Ther Nucl Med","first-page":"313","article-title":"The cerebro-hepato-renal syndrome (CHRS) (Zellweger's syndrome).","volume":"109","author":"Poznanski, AK","year":"1970","unstructured":"Poznanski, AK, JSNosanchuk, JBaublis, and JFHolt. The cerebro-hepato-renal syndrome (CHRS) (Zellweger's syndrome).Am J Roentgenol Radium Ther Nucl Med1970. 109:313\u2013322."},{"key":"i1543-2165-134-4-583-b338","series-title":"J Pediatr","first-page":"602","article-title":"A syndrome of ocular abnormalities, calcification of cartilage, and failure to thrive.","volume":"73","author":"Punnett, HH","year":"1968","unstructured":"Punnett, HH and JAKirkpatrickJr. A syndrome of ocular abnormalities, calcification of cartilage, and failure to thrive.J Pediatr1968. 73:602\u2013606."},{"key":"i1543-2165-134-4-583-b339","series-title":"Biol Neonate","first-page":"219","article-title":"The cerebro-hepato-renal syndrome (Zellweger's syndrome).","volume":"25","author":"Sommer, A","year":"1974","unstructured":"Sommer, A, EJBradel, and ABHamoudi. The cerebro-hepato-renal syndrome (Zellweger's syndrome).Biol Neonate1974. 25:219\u2013229."},{"key":"i1543-2165-134-4-583-b340","series-title":"Bull Johns Hopkins Hosp","first-page":"402","article-title":"A familial syndrome of multiple congenital defects.","volume":"114","author":"Bowen, P","year":"1964","unstructured":"Bowen, P, CSLee, HZellweger, and RLindenberg. A familial syndrome of multiple congenital defects.Bull Johns Hopkins Hosp1964. 114:402\u2013414."},{"issue":"8","key":"i1543-2165-134-4-583-b341","series-title":"Eur J Pediatr","first-page":"995","article-title":"Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.","volume":"168","author":"Arhan, E","year":"2009","unstructured":"Arhan, E, AMYusufo\u011flu, and TRSayli. Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.Eur J Pediatr2009. 168 (8):995\u2013998."},{"key":"i1543-2165-134-4-583-b342","series-title":"Acta Paediat","first-page":"185","article-title":"Polycystic kidneys in newborns, infants and children: a clinical and pathological study.","volume":"50","author":"Lundin, PM","year":"1961","unstructured":"Lundin, PM and IOlow. Polycystic kidneys in newborns, infants and children: a clinical and pathological study.Acta Paediat1961. 50:185\u2013200."},{"key":"i1543-2165-134-4-583-b343","series-title":"Pediatrics","first-page":"931","article-title":"Polycystic kidneys, internal hydrocephalus and polydactylism in newborn siblings.","volume":"39","author":"Simopoulos, AP","year":"1967","unstructured":"Simopoulos, AP, GGBrennan, AAlwan, and NFidis. 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Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.Nat Genet2007. 39:977\u2013983."},{"key":"i1543-2165-134-4-583-b351","series-title":"Am J Hum Genet","first-page":"1101","article-title":"The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1\u2013p12: implications for genetic counseling.","volume":"56","author":"Guay-Woodford, LM","year":"1995","unstructured":"Guay-Woodford, LM, GMuecher, SDHopkins, et al. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1\u2013p12: implications for genetic counseling.Am J Hum Genet1995. 56:1101\u20131107."},{"key":"i1543-2165-134-4-583-b01","series-title":"Am J Dis Child","first-page":"61(1):116","article-title":"Polycystic kidney.","author":"Roos, A","year":"1941","unstructured":"Roos, A\n \n Polycystic kidney.\n Am J Dis Child\n 1941. 61(1):116\u2013127."},{"key":"i1543-2165-134-4-583-b02","series-title":"Verhandl.d.deutsch.path.Gesellsch","first-page":"187","article-title":"Ueber die Entwicklung der bleibenden Niere und uber die Entstehung der Cystenniere.","volume":"2","author":"Ribbert, H","year":"1889","unstructured":"Ribbert, H\n \n Ueber die Entwicklung der bleibenden Niere und uber die Entstehung der Cystenniere.\n Verhandl.d.deutsch.path.Gesellsch\n 1889. 2:187\u2013201."},{"key":"i1543-2165-134-4-583-b03","series-title":"Lehrbuch der speciellen pathologischen Anatomie","author":"Ziegler, E","year":"1902","unstructured":"Ziegler, E\n \n Lehrbuch der speciellen pathologischen Anatomie. Jena, GermanyGustav Fischer. 1902."},{"key":"i1543-2165-134-4-583-b04","series-title":"Arch Pathol","first-page":"459","article-title":"Pathogenesis of polycystic kidneys: historical survey.","volume":"77","author":"Osathanondh, V","year":"1964","unstructured":"Osathanondh, V and ELPotter. Pathogenesis of polycystic kidneys: historical survey.Arch Pathol1964. 77:459\u2013465."},{"key":"i1543-2165-134-4-583-b05","series-title":"Cystic Diseases of the Kidney","first-page":"7","article-title":"A classification of renal cysts.","author":"Bernstein, J","year":"1976","unstructured":"Bernstein, J\n \n A classification of renal cysts.\n In:\n \n \n Gardner, K\n \n Cystic Diseases of the Kidney. 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The triad of nesidioblastosis, congenital neuroblastoma and glomerulocystic disease of the newborn: a case report.Turk J Pediatr2005. 47:298\u2013302."},{"key":"i1543-2165-134-4-583-b28","series-title":"Am J Pathol","first-page":"521","article-title":"Neurilemmoblastosis; the influence of intrinsic factors in disease when development of the body is abnormal.","volume":"26","author":"Inglis, K","year":"1950","unstructured":"Inglis, K\n \n Neurilemmoblastosis; the influence of intrinsic factors in disease when development of the body is abnormal.\n Am J Pathol\n 1950. 26:521\u2013549."},{"key":"i1543-2165-134-4-583-b29","series-title":"Nephrol Dial Transplant","first-page":"1267","article-title":"Kidney disease in hypomelanosis of Ito.","volume":"16","author":"Coward, RJ","year":"2001","unstructured":"Coward, RJ, RARisdon, CBingham, ATHattersley, and ASWoolf. 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Heterogeneity of early onset nephrotic syndromes in infants (nephrotic syndrome \u201cin infants\u201d): anatomical, clinical and genetic study of 37 cases [in French].Helv Paediatr Acta1973. 28:91\u2013107."},{"key":"i1543-2165-134-4-583-b38","series-title":"D\u00e9g\u00e9n\u00e9rescence kystique du foie et des reins","year":"1876","unstructured":"Michalovicz\n \n D\u00e9g\u00e9n\u00e9rescence kystique du foie et des reins. Paris, France. 1876."},{"key":"i1543-2165-134-4-583-b39","series-title":"Ges. Abhandl z. Wissensch. Med. Frankfurt","first-page":"864","article-title":"Ueber congenitale nierenwassersucht.","author":"Virchow, R","year":"1856","unstructured":"Virchow, R\n \n Ueber congenitale nierenwassersucht.\n Ges. Abhandl z. Wissensch. Med. 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Glomerulocystic kidney disease: a single entity?Nephron1993. 63:100\u2013103."},{"key":"i1543-2165-134-4-583-b46","series-title":"Am J Kidney Dis","first-page":"154","article-title":"Familial adult glomerulocystic kidney disease.","volume":"9","author":"Carson, RW","year":"1987","unstructured":"Carson, RW, DBedi, TCavallo, and TDDuBoseJr. Familial adult glomerulocystic kidney disease.Am J Kidney Dis1987. 9:154\u2013165."},{"key":"i1543-2165-134-4-583-b47","series-title":"Am J Clin Pathol","first-page":"619","article-title":"Glomerulocystic kidney disease: report of an adult case.","volume":"82","author":"Dosa, S","year":"1984","unstructured":"Dosa, S, AMThompson, and AAbraham. 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Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus.Diabetologia2001. 44 (3):387\u2013388."},{"key":"i1543-2165-134-4-583-b113","series-title":"J Am Soc Nephrol","first-page":"2175","article-title":"Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development.","volume":"12","author":"Kolatsi-Joannou, M","year":"2001","unstructured":"Kolatsi-Joannou, M, CBingham, SEllard, et al. 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Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.Z Kinderheilkd1974. 116:73\u201394."},{"key":"i1543-2165-134-4-583-b285","series-title":"Nephrology","first-page":"909","article-title":"Renal involvement in genetic-hereditary malformation syndromes.","author":"Gilbert, E","year":"1979","unstructured":"Gilbert, E and JMOpitz. Renal involvement in genetic-hereditary malformation syndromes.In:Hamburger, J, JCrosnier, and JPGr\u00fcnfeld. Nephrology. New York, NYJohn Wiley and Sons. 1979. 909\u2013944."},{"key":"i1543-2165-134-4-583-b286","series-title":"J Med Genet","first-page":"107","article-title":"Asphyxiating thoracic chondrodystrophy: association with renal disease and evidence for possile heterozygous expression.","volume":"8","author":"Shokeir, MH","year":"1971","unstructured":"Shokeir, MH, CSHouston, and CFAwen. 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Cystic dysplasia of the kidneys studied by micro-dissection in a case of 13\u201315 trisomy.J Pathol Bacteriol1965. 89:233\u2013238."},{"key":"i1543-2165-134-4-583-b291","series-title":"Pediatr Dev Pathol","first-page":"121","article-title":"OEIS complex with glomerulocystic kidney disease: a case report.","volume":"10","author":"Hong, R","year":"2007","unstructured":"Hong, R, SCLim, JWJang, et al. OEIS complex with glomerulocystic kidney disease: a case report.Pediatr Dev Pathol2007. 10:121\u2013124."},{"key":"i1543-2165-134-4-583-b292","series-title":"Diabetologia","first-page":"153","article-title":"A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.","volume":"45","author":"Carbone, I","year":"2002","unstructured":"Carbone, I, MCotellessa, CBarella, et al. A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.Diabetologia2002. 45:153\u2013154."},{"key":"i1543-2165-134-4-583-b293","series-title":"Pathol Annu","first-page":"213","article-title":"Developmental abnormalities of the renal parenchyma \u2014renal hypoplasia and dysplasia.","volume":"3","author":"Bernstein, J","year":"1968","unstructured":"Bernstein, J\n \n Developmental abnormalities of the renal parenchyma \u2014renal hypoplasia and dysplasia.\n Pathol Annu\n 1968. 3:213\u2013247."},{"key":"i1543-2165-134-4-583-b294","series-title":"Clin Nephrol","first-page":"83","article-title":"Bilateral renal dysplasia in three siblings: report of a survivor.","volume":"5","author":"Cole, BR","year":"1976","unstructured":"Cole, BR, RLKaufman, WHMcAlister, and JMKissane. 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A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings.J Pediatr1965. 67:617\u2013624."},{"key":"i1543-2165-134-4-583-b301","series-title":"Eur J Pediatr","first-page":"60","article-title":"Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers, II: morphology and pathogenesis.","volume":"139","author":"Bohm, N","year":"1982","unstructured":"Bohm, N, JUy, MKiessling, and WLehnert. 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