{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T12:09:02Z","timestamp":1778760542892,"version":"3.51.4"},"reference-count":57,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:00:00Z","timestamp":1778716800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:00:00Z","timestamp":1778716800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100007787","name":"National Research Centre","doi-asserted-by":"publisher","award":["13060154"],"award-info":[{"award-number":["13060154"]}],"id":[{"id":"10.13039\/100007787","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Biol Rep"],"published-print":{"date-parts":[[2026,12]]},"DOI":"10.1007\/s11033-026-11893-w","type":"journal-article","created":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T11:22:54Z","timestamp":1778757774000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Molecular characteristics of kidney and urinary tract congenital anomalies in a cohort of Egyptian patients using whole-exome sequencing"],"prefix":"10.1007","volume":"53","author":[{"given":"Tamer H.A.","family":"Ammar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heba Mostafa","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8860-0980","authenticated-orcid":false,"given":"Eman E.A.","family":"Mohammed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hazem Mohamed","family":"El-Hariri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Abdelaleem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manal M.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,5,14]]},"reference":[{"key":"11893_CR1","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1007\/s00467-013-2684-4","volume":"29","author":"A Vivante","year":"2014","unstructured":"Vivante A, Kohl S, Hwang DY, Dworschak GC, Hildebrandt F (2014) Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Pediatr Nephrol 29:695\u2013704. https:\/\/doi.org\/10.1007\/s00467-013-2684-4","journal-title":"Pediatr Nephrol"},{"key":"11893_CR2","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1038\/ki.2009.220","volume":"76","author":"S Sanna-Cherchi","year":"2009","unstructured":"Sanna-Cherchi S, Ravani P, Corbani V, Parodi S, Haupt R, Piaggio G, Innocenti ML, Somenzi D, Trivelli A, Caridi G, Izzi C, Scolari F, Mattioli G, Allegri L, Ghiggeri GM (2009) Renal outcome in patients with congenital anomalies of the kidney and urinary tract. Kidney Int 76:528\u2013533. https:\/\/doi.org\/10.1038\/ki.2009.220","journal-title":"Kidney Int"},{"key":"11893_CR3","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1111\/nep.12414","volume":"20","author":"NA Soliman","year":"2015","unstructured":"Soliman NA, Ali RI, Ghobrial EE, Habib EI, Ziada AM (2015) Pattern of clinical presentation of congenital anomalies of the kidney and urinary tract among infants and children. Nephrol (Carlton) 20:413\u2013418. https:\/\/doi.org\/10.1111\/nep.12414","journal-title":"Nephrol (Carlton)"},{"key":"11893_CR4","doi-asserted-by":"publisher","first-page":"2348","DOI":"10.1681\/ASN.2017121265","volume":"29","author":"AT van der Ven","year":"2018","unstructured":"van der Ven AT, Connaughton DM, Ityel H et al (2018) Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol 29:2348\u20132361. https:\/\/doi.org\/10.1681\/ASN.2017121265","journal-title":"J Am Soc Nephrol"},{"key":"11893_CR5","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1038\/s41581-023-00742-9","volume":"19","author":"CM Kolvenbach","year":"2023","unstructured":"Kolvenbach CM, Shril S, Hildebrandt F (2023) The genetics and pathogenesis of CAKUT. Nat Rev Nephrol 19:709\u2013720. https:\/\/doi.org\/10.1038\/s41581-023-00742-9","journal-title":"Nat Rev Nephrol"},{"key":"11893_CR6","doi-asserted-by":"publisher","first-page":"1384676","DOI":"10.3389\/fmed.2024.1384676","volume":"11","author":"AH Mahmoud","year":"2024","unstructured":"Mahmoud AH, Talaat IM, Tlili A, Hamoudi R (2024) Congenital anomalies of the kidney and urinary tract. Front Med (Lausanne) 11:1384676. https:\/\/doi.org\/10.3389\/fmed.2024.1384676","journal-title":"Front Med (Lausanne)"},{"key":"11893_CR7","doi-asserted-by":"publisher","first-page":"132","DOI":"10.4329\/wjr.v8.i2.132","volume":"8","author":"S Ramanathan","year":"2016","unstructured":"Ramanathan S, Kumar D, Khanna M, Al Heidous M, Sheikh A, Virmani V, Palaniappan Y (2016) Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract. World J Radiol 8:132\u2013141. https:\/\/doi.org\/10.4329\/wjr.v8.i2.132","journal-title":"World J Radiol"},{"key":"11893_CR8","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1046\/j.1523-1755.2002.00188.x","volume":"61","author":"I Ichikawa","year":"2002","unstructured":"Ichikawa I, Kuwayama F, Pope JC 4th, Stephens FD, Miyazaki Y (2002) Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT. Kidney Int 61:889\u2013898. https:\/\/doi.org\/10.1046\/j.1523-1755.2002.00188.x","journal-title":"Kidney Int"},{"key":"11893_CR9","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1038\/nrneph.2015.140","volume":"11","author":"N Nicolaou","year":"2015","unstructured":"Nicolaou N, Renkema KY, Bongers EM, Giles RH, Knoers NV (2015) Genetic, environmental, and epigenetic factors involved in CAKUT. Nat Rev Nephrol 11:720\u2013731. https:\/\/doi.org\/10.1038\/nrneph.2015.140","journal-title":"Nat Rev Nephrol"},{"key":"11893_CR10","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-026-06053-8","author":"P Saiteja","year":"2026","unstructured":"Saiteja P, Sinha A (2026) CAKUT: Current Understanding and Future Directions. Indian J Pediatr. https:\/\/doi.org\/10.1007\/s12098-026-06053-8Online ahead of print.PMID: 41843392","journal-title":"Indian J Pediatr"},{"key":"11893_CR11","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-025-05892-1","author":"S Kt","year":"2026","unstructured":"Kt S, Rahman RK, Mr A, Mammen A (2026) Congenital Anomalies of Kidney and Urinary Tract in Children - Clinical Spectrum and Complications. Indian J Pediatr. https:\/\/doi.org\/10.1007\/s12098-025-05892-1Online ahead of print.PMID: 41484534","journal-title":"Indian J Pediatr"},{"key":"11893_CR12","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G, Genome Aggregation Database Consortium et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581:434\u2013443. https:\/\/doi.org\/10.1038\/s41586-020-2308-7","journal-title":"Nature"},{"key":"11893_CR13","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, ACMG Laboratory Quality Assurance Committee et al (2015) Standards and guidelines for the interpretation of sequence variants. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"11893_CR14","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1186\/s40246-022-00407-x","volume":"16","author":"E Masson","year":"2022","unstructured":"Masson E, Zou WB, G\u00e9nin E, Cooper DN, Le Gac G, Fichou Y, Pu N, Rebours V, F\u00e9rec C, Liao Z, Chen JM (2022) Expanding ACMG variant classification guidelines into a general framework. Hum Genomics 16:31. https:\/\/doi.org\/10.1186\/s40246-022-00407-x","journal-title":"Hum Genomics"},{"key":"11893_CR15","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1080\/10408363.2017.1379945","volume":"54","author":"K Adeli","year":"2017","unstructured":"Adeli K, Higgins V, Trajcevski K, White-Al Habeeb N (2017) The Canadian laboratory initiative on pediatric reference intervals: A CALIPER white paper. Crit Rev Clin Lab Sci 54:358\u2013413. https:\/\/doi.org\/10.1080\/10408363.2017.1379945","journal-title":"Crit Rev Clin Lab Sci"},{"issue":"1","key":"11893_CR16","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1515\/medgen-2025-2053","volume":"38","author":"AC Hilger","year":"2026","unstructured":"Hilger AC, Westland R, Hoefele J (2026) Genetics of CAKUT. Med Genet 38(1):3\u201310. https:\/\/doi.org\/10.1515\/medgen-2025-2053eCollection 2026 Feb.PMID: 41710414","journal-title":"Med Genet"},{"issue":"4","key":"11893_CR17","doi-asserted-by":"publisher","first-page":"e47314","DOI":"10.1097\/MD.0000000000047314.PMID","volume":"105","author":"M Ibrahim","year":"2026","unstructured":"Ibrahim M, Ahmad MH, Zahid H, Ahmad MA, Inam F, Sahil F, Afridi MK, Ahmad R, Arshad F, Ghafoor MU, Bilal M, Ali M (2026) Pediatric demographics and regional trends from congenital anomalies of the kidney and urinary tract: A U.S. population-based study from 1999 to 2020. Med (Baltim) 105(4):e47314. https:\/\/doi.org\/10.1097\/MD.0000000000047314.PMID","journal-title":"Med (Baltim)"},{"key":"11893_CR18","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.semnephrol.2022.04.001","volume":"42","author":"GG Garcia","year":"2022","unstructured":"Garcia GG, Iyengar A, Kaze F, Kierans C, Padilla-Altamira C, Luyckx VA (2022) Sex and gender differences in chronic kidney disease and access to care around the globe. Semin Nephrol 42:101\u2013113. https:\/\/doi.org\/10.1016\/j.semnephrol.2022.04.001","journal-title":"Semin Nephrol"},{"key":"11893_CR19","doi-asserted-by":"publisher","first-page":"199e1","DOI":"10.1016\/j.jpurol.2022.11.025","volume":"19","author":"RT Boato","year":"2023","unstructured":"Boato RT, Aguiar MB, Mak RH, Colosimo EA, Sim\u00f5es E, Silva AC, Oliveira EA (2023) Maternal risk factors for congenital anomalies of the kidney and urinary tract: a case\u2013control study. J Pediatr Urol 19:199e1\u2013199e11. https:\/\/doi.org\/10.1016\/j.jpurol.2022.11.025","journal-title":"J Pediatr Urol"},{"key":"11893_CR20","doi-asserted-by":"publisher","first-page":"1840","DOI":"10.1046\/j.1523-1755.2002.00322.x","volume":"61","author":"M Hiraoka","year":"2002","unstructured":"Hiraoka M, Tsukahara H, Ohshima Y, Kasuga K, Ishihara Y, Mayumi M (2002) Renal aplasia is the predominant cause of congenital solitary kidneys. Kidney Int 61:1840\u20131844. https:\/\/doi.org\/10.1046\/j.1523-1755.2002.00322.x","journal-title":"Kidney Int"},{"key":"11893_CR21","doi-asserted-by":"publisher","first-page":"928","DOI":"10.3390\/children11080928","volume":"11","author":"MC Colceriu","year":"2024","unstructured":"Colceriu MC, Aldea PL, Bulat\u0103 B, Delean D, Sevastre-Berghian A, Clichici S, Bo\u021b R\u0103chi\u0219an AL, Mocan T (2024) Nadir creatinine in congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience. Child (Basel) 11:928. https:\/\/doi.org\/10.3390\/children11080928","journal-title":"Child (Basel)"},{"key":"11893_CR22","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12882-021-02628-z","volume":"23","author":"A Narikot","year":"2022","unstructured":"Narikot A, Pardeshi VC, Shubha AM, Iyengar A, Vasudevan A (2022) Deciphering the mutation spectrum in South Indian children with congenital anomalies of the kidney and urinary tract. BMC Nephrol 23:1. https:\/\/doi.org\/10.1186\/s12882-021-02628-z","journal-title":"BMC Nephrol"},{"key":"11893_CR23","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1007\/s00467-015-3196-1","volume":"31","author":"K Ishikura","year":"2016","unstructured":"Ishikura K, Uemura O, Hamasaki Y, Pediatric CKD Study Group in Japan et al (2016) Insignificant impact of vesicoureteral reflux on the progression of chronic kidney disease in children with CAKUT. Pediatr Nephrol 31:105\u2013112. https:\/\/doi.org\/10.1007\/s00467-015-3196-1","journal-title":"Pediatr Nephrol"},{"key":"11893_CR24","doi-asserted-by":"publisher","first-page":"106252","DOI":"10.1016\/j.earlhumdev.2025.106252","volume":"205","author":"GNPP Wisnu","year":"2025","unstructured":"Wisnu GNPP, Situmorang GR, Wahyudi I, Rodjani A, Fahlevi R, Raharja PAR (2025) Factors affecting the incidence of congenital anomaly of the kidney and urinary tract: a systematic review and meta-analysis. Early Hum Dev 205:106252. https:\/\/doi.org\/10.1016\/j.earlhumdev.2025.106252","journal-title":"Early Hum Dev"},{"key":"11893_CR25","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1053\/j.ajkd.2009.09.014","volume":"55","author":"P Muntner","year":"2010","unstructured":"Muntner P, Anderson A, Charleston J, Chronic Renal Insufficiency Cohort (CRIC) Study Investigators et al (2010) Hypertension awareness, treatment, and control in adults with chronic kidney disease: results from the CRIC Study. Am J Kidney Dis 55:441\u2013451. https:\/\/doi.org\/10.1053\/j.ajkd.2009.09.014","journal-title":"Am J Kidney Dis"},{"key":"11893_CR26","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1111\/cge.14615","volume":"106","author":"AJ Barakat","year":"2024","unstructured":"Barakat AJ, Butler MG (2024) Genetics of anomalies of the kidney and urinary tract with congenital heart disease: a review. Clin Genet 106:667\u2013678. https:\/\/doi.org\/10.1111\/cge.14615","journal-title":"Clin Genet"},{"key":"11893_CR27","doi-asserted-by":"publisher","first-page":"774","DOI":"10.3390\/nu17050774","volume":"17","author":"M Hryciuk","year":"2025","unstructured":"Hryciuk M, Heleniak Z, Ma\u0142gorzewicz S, Kowalski K, Antosiewicz J, Koelmer A, \u017bmijewski M, D\u0119bska-\u015alizie\u0144 A (2025) Assessment of vitamin D metabolism disorders in hemodialysis patients. Nutrients 17:774. https:\/\/doi.org\/10.3390\/nu17050774","journal-title":"Nutrients"},{"key":"11893_CR28","doi-asserted-by":"publisher","first-page":"2133","DOI":"10.1007\/s00467-014-2846-z","volume":"29","author":"A Bettinelli","year":"2014","unstructured":"Bettinelli A, Vigan\u00f2 C, Provero MC, Barretta F, Albisetti A, Tedeschi S, Scicchitano B, Bianchetti MG (2014) Phosphate homeostasis in Bartter syndrome: a case-control study. Pediatr Nephrol 29:2133\u20132138. https:\/\/doi.org\/10.1007\/s00467-014-2846-z","journal-title":"Pediatr Nephrol"},{"key":"11893_CR29","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1007\/s00467-024-06479-2","volume":"40","author":"LM Vendrig","year":"2025","unstructured":"Vendrig LM, Ten Hoor MAC, K\u00f6nig BH, ArtDECO Consortium et al (2025) Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 40:685\u2013699. https:\/\/doi.org\/10.1007\/s00467-024-06479-2","journal-title":"Pediatr Nephrol"},{"key":"11893_CR30","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1111\/cge.13606","volume":"96","author":"J Rao","year":"2019","unstructured":"Rao J, Liu X, Mao J, Internet Plus Nephrology Alliance of National Center for Children\u2019s Care et al (2019) Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system. Clin Genet 96:402\u2013410. https:\/\/doi.org\/10.1111\/cge.13606","journal-title":"Clin Genet"},{"key":"11893_CR31","doi-asserted-by":"publisher","first-page":"76","DOI":"10.4274\/jcrpe.galenos.2023.2023-5-16","volume":"16","author":"R Y\u0131ld\u0131r\u0131m","year":"2024","unstructured":"Y\u0131ld\u0131r\u0131m R, Unal E, \u00d6zalkak \u015e, Akal\u0131n A, Aykut A, Y\u0131lmaz N (2024) Clinical variability in a family with Noonan syndrome with a homozygous PTPN11 gene variant in two individuals. J Clin Res Pediatr Endocrinol 16:76\u201383. https:\/\/doi.org\/10.4274\/jcrpe.galenos.2023.2023-5-16","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"11893_CR32","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/j.ajhg.2013.05.021","volume":"93","author":"Y Aoki","year":"2013","unstructured":"Aoki Y, Niihori T, Banjo T et al (2013) Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS\/MAPK pathway syndrome. Am J Hum Genet 93:173\u2013180. https:\/\/doi.org\/10.1016\/j.ajhg.2013.05.021","journal-title":"Am J Hum Genet"},{"key":"11893_CR33","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1002\/ajmg.a.31017","volume":"139","author":"E Lopez-Rangel","year":"2005","unstructured":"Lopez-Rangel E, Malleson PN, Lirenman DS, Roa B, Wiszniewska J, Lewis ME (2005) Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome. Am J Med Genet A 139:239\u2013242. https:\/\/doi.org\/10.1002\/ajmg.a.31017","journal-title":"Am J Med Genet A"},{"key":"11893_CR34","doi-asserted-by":"publisher","first-page":"2919","DOI":"10.1007\/s00431-022-04497-6","volume":"181","author":"C Davico","year":"2022","unstructured":"Davico C, D\u2019Alessandro R, Borgogno M et al (2022) Epilepsy in a cohort of children with Noonan syndrome and related disorders. Eur J Pediatr 181:2919\u20132926. https:\/\/doi.org\/10.1007\/s00431-022-04497-6","journal-title":"Eur J Pediatr"},{"key":"11893_CR35","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1016\/j.ajhg.2009.07.010","volume":"85","author":"M Zivna","year":"2009","unstructured":"Zivna M, H\u016flkov\u00e1 H, Matignon M et al (2009) Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet 85:204\u2013213. https:\/\/doi.org\/10.1016\/j.ajhg.2009.07.010","journal-title":"Am J Hum Genet"},{"key":"11893_CR36","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1002\/ajmg.c.32008","volume":"190","author":"M Zivn\u00e1","year":"2022","unstructured":"Zivn\u00e1 M, Kidd KO, Bare\u0161ov\u00e1 V, H\u016flkov\u00e1 H, Kmoch S, Bleyer AJ, Sr (2022) Autosomal dominant tubulointerstitial kidney disease: a review. Am J Med Genet C Semin Med Genet 190:309\u2013324. https:\/\/doi.org\/10.1002\/ajmg.c.32008","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"11893_CR37","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1016\/B978-1-4160-3966-2.00029-1","volume-title":"Modern Surgical Pathology","author":"SG Sabnis","year":"2009","unstructured":"Sabnis SG, Koss MN, Ross WB, Pavlova Z (2009) Non-neoplastic kidney. In: Weidner N, Cote RJ, Suster S, Weiss LM (eds) Modern Surgical Pathology, vol 2, 2nd edn. Elsevier, Philadelphia, pp 979\u20131042. https:\/\/doi.org\/10.1016\/B978-1-4160-3966-2.00029-1","edition":"2"},{"key":"11893_CR38","doi-asserted-by":"publisher","first-page":"1821","DOI":"10.12669\/pjms.38.7.5823","volume":"38","author":"R Yamin","year":"2022","unstructured":"Yamin R, Moorani K, Shaikh M, Yamin S (2022) Clinical profile of children with posterior urethral valve at a tertiary care center. Pak J Med Sci 38:1821\u20131826. https:\/\/doi.org\/10.12669\/pjms.38.7.5823","journal-title":"Pak J Med Sci"},{"key":"11893_CR39","doi-asserted-by":"publisher","first-page":"411","DOI":"10.5414\/cnp74411","volume":"74","author":"AJ Bleyer","year":"2010","unstructured":"Bleyer AJ, Zivn\u00e1 M, Hulkov\u00e1 H et al (2010) Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin Nephrol 74:411\u2013422. https:\/\/doi.org\/10.5414\/cnp74411","journal-title":"Clin Nephrol"},{"key":"11893_CR40","doi-asserted-by":"publisher","first-page":"1589","DOI":"10.1016\/j.kint.2020.06.041","volume":"98","author":"M Zivn\u00e1","year":"2020","unstructured":"Zivn\u00e1 M, Kidd K, Zaidan M et al (2020) An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. Kidney Int 98:1589\u20131604. https:\/\/doi.org\/10.1016\/j.kint.2020.06.041","journal-title":"Kidney Int"},{"key":"11893_CR41","unstructured":"ShamamYM, Hashmi MF (2023) Autosomal dominant tubulointerstitial kidney disease. StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL). https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK568710\/"},{"key":"11893_CR42","doi-asserted-by":"publisher","first-page":"1595","DOI":"10.1093\/ndt\/12.8.1595","volume":"12","author":"JA Jefferson","year":"1997","unstructured":"Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP (1997) Autosomal dominant Alport syndrome linked to the type IV collagen alpha 3 and alpha 4 genes (COL4A3 and COL4A4). Nephrol Dial Transpl 12:1595\u20131599. https:\/\/doi.org\/10.1093\/ndt\/12.8.1595","journal-title":"Nephrol Dial Transpl"},{"key":"11893_CR43","doi-asserted-by":"publisher","first-page":"1933","DOI":"10.1016\/j.ekir.2022.06.001","volume":"7","author":"J Savige","year":"2022","unstructured":"Savige J (2022) Heterozygous pathogenic COL4A3 and COL4A4 variants (autosomal dominant Alport syndrome) are common and not typically associated with end-stage kidney failure, hearing loss, or ocular abnormalities. Kidney Int Rep 7:1933\u20131938. https:\/\/doi.org\/10.1016\/j.ekir.2022.06.001","journal-title":"Kidney Int Rep"},{"key":"11893_CR44","doi-asserted-by":"publisher","first-page":"848","DOI":"10.1038\/ki.2008.686","volume":"75","author":"S Rossetti","year":"2009","unstructured":"Rossetti S, Kubly VJ, Consugar MB et al (2009) Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int 75:848\u2013855. https:\/\/doi.org\/10.1038\/ki.2008.686","journal-title":"Kidney Int"},{"key":"11893_CR45","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1007\/s10157-020-01856-1","volume":"24","author":"Y Ushio","year":"2020","unstructured":"Ushio Y, Kataoka H, Sato M et al (2020) Association between anemia and renal prognosis in autosomal dominant polycystic kidney disease: a retrospective study. Clin Exp Nephrol 24:500\u2013508. https:\/\/doi.org\/10.1007\/s10157-020-01856-1","journal-title":"Clin Exp Nephrol"},{"key":"11893_CR46","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1016\/j.kint.2021.04.019","volume":"100","author":"K Burgmaier","year":"2021","unstructured":"Burgmaier K, Brinker L, Erger F, ARegPKD Consortium et al (2021) Refining genotype\u2013phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants. Kidney Int 100:650\u2013659. https:\/\/doi.org\/10.1016\/j.kint.2021.04.019","journal-title":"Kidney Int"},{"key":"11893_CR47","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1186\/s43042-024-00568-5","volume":"25","author":"T Zeraati","year":"2024","unstructured":"Zeraati T, Abbaszadegan MR, Azarfar A, Karimiani EG, Lotfi M, Zeraati AA (2024) Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation\u2014a case report. Egypt J Med Hum Genet 25:135. https:\/\/doi.org\/10.1186\/s43042-024-00568-5","journal-title":"Egypt J Med Hum Genet"},{"key":"11893_CR48","first-page":"80","volume":"11","author":"A Dumitru","year":"2016","unstructured":"Dumitru A, Costache M, Lazaroiu AM et al (2016) Fraser syndrome: a case report and review of the literature. Maedica (Bucur) 11:80\u201383","journal-title":"Maedica (Bucur)"},{"key":"11893_CR49","doi-asserted-by":"publisher","first-page":"1917","DOI":"10.1681\/ASN.2013101103","volume":"25","author":"S Kohl","year":"2014","unstructured":"Kohl S, Hwang DY, Dworschak GC et al (2014) Mild recessive mutations in six Fraser syndrome\u2013related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol 25:1917\u20131922. https:\/\/doi.org\/10.1681\/ASN.2013101103","journal-title":"J Am Soc Nephrol"},{"key":"11893_CR50","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1038\/ki.2011.315","volume":"81","author":"P Saisawat","year":"2012","unstructured":"Saisawat P, Tasic V, Vega-Warner V et al (2012) Kidney Int 81:196\u2013200. https:\/\/doi.org\/10.1038\/ki.2011.315","journal-title":"Kidney Int"},{"key":"11893_CR51","doi-asserted-by":"publisher","first-page":"3005","DOI":"10.1002\/ajmg.a.62398","volume":"185","author":"G Lemire","year":"2021","unstructured":"Lemire G, Zheng B, Ediae GU, Care4Rare Canada Consortium et al (2021) Homozygous WNT9B variants in two families with bilateral renal agenesis\/hypoplasia\/dysplasia. Am J Med Genet A 185:3005\u20133011. https:\/\/doi.org\/10.1002\/ajmg.a.62398","journal-title":"Am J Med Genet A"},{"issue":"1","key":"11893_CR52","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1681\/ASN.0000000897","volume":"37","author":"MN Rheault","year":"2026","unstructured":"Rheault MN (2026) Treatment Approaches for Alport Syndrome. J Am Soc Nephrol 37(1):172\u2013179 doi: 10.1681\/ASN.0000000897. Epub 2025 Sep 12.PMID: 40938675","journal-title":"J Am Soc Nephrol"},{"key":"11893_CR53","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1038\/s41431-024-01706-8","volume":"33","author":"S Daga","year":"2025","unstructured":"Daga S, Loberti L, Rollo G et al (2025) Slowly progressive autosomal dominant Alport syndrome due to COL4A3 splicing variant. Eur J Hum Genet 33:461\u2013467. https:\/\/doi.org\/10.1038\/s41431-024-01706-8","journal-title":"Eur J Hum Genet"},{"key":"11893_CR54","doi-asserted-by":"publisher","first-page":"100815","DOI":"10.1016\/j.xkme.2024.100815","volume":"6","author":"YW Chang","year":"2024","unstructured":"Chang YW, Hwang DY, Chen TY, Lin CC, Tseng MH, Tsai JD (2024) Kidney cysts in children with Alport syndrome: a report of three cases. Kidney Med 6:100815. https:\/\/doi.org\/10.1016\/j.xkme.2024.100815","journal-title":"Kidney Med"},{"key":"11893_CR55","doi-asserted-by":"publisher","first-page":"151437","DOI":"10.1016\/j.semnephrol.2023.151437","volume":"43","author":"J M\u00fcnch","year":"2023","unstructured":"M\u00fcnch J, Goodyer PR, Wagner CA (2023) Tubular diseases and stones seen from pediatric and adult nephrology perspectives. Semin Nephrol 43:151437. https:\/\/doi.org\/10.1016\/j.semnephrol.2023.151437","journal-title":"Semin Nephrol"},{"key":"11893_CR56","first-page":"309","volume":"40","author":"K Maekawa","year":"1998","unstructured":"Maekawa K, Fujimoto T, Shiiki H et al (1998) A case of Bartter\u2019s syndrome with chronic renal failure due to chronic interstitial nephritis. Nihon Jinzo Gakkai Shi 40:309\u2013314","journal-title":"Nihon Jinzo Gakkai Shi"},{"key":"11893_CR57","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1007\/s10157-015-1219-7","volume":"20","author":"S Horie","year":"2016","unstructured":"Horie S, Mochizuki T, Muto S et al (2016) Evidence-based clinical practice guidelines for polycystic kidney disease 2014. Clin Exp Nephrol 20:493\u2013509. https:\/\/doi.org\/10.1007\/s10157-015-1219-7","journal-title":"Clin Exp Nephrol"}],"container-title":["Molecular Biology Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-026-11893-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11033-026-11893-w","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-026-11893-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T11:22:57Z","timestamp":1778757777000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11033-026-11893-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,14]]},"references-count":57,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,12]]}},"alternative-id":["11893"],"URL":"https:\/\/doi.org\/10.1007\/s11033-026-11893-w","relation":{},"ISSN":["0301-4851","1573-4978"],"issn-type":[{"value":"0301-4851","type":"print"},{"value":"1573-4978","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,14]]},"assertion":[{"value":"2 January 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 April 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 May 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Participants or legal guardians have consented for the publication.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Nothing to disclose.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclosures"}},{"value":"Human Ethics and Consent to Participate declarations\n                      .","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclosures"}},{"value":"The Medical Research Ethics Committee at the National Research Centre, Egypt has approved the present study and the informed consent.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclosures"}},{"value":"The name of the Approval Committee that approved the study:\n                      \n                        \u201cThe Medical Research Ethics Committee\u201d\n                      \n                      .","order":7,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclosures"}},{"value":"Written informed consent was obtained from the parents of the patients according to the guidelines of\n                      \n                        \u201cThe Medical Research Ethics Committee\u201d\n                      \n                      at the National Research Centre (NRC) (approval no. 044101223).","order":8,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclosures"}}],"article-number":"762"}}