A no-nonsense approach to hereditary kidney disease.
Tokhmafshan F, Dickinson K, Akpa MM, Brasell E, Huertas P, Goodyer PR.
Pediatr Nephrol. 2020 Nov;35(11):2031-2042. doi: 10.1007/s00467-019-04394-5. Epub 2019 Dec 5.
Epidemiology of chronic kidney disease in children.
Harambat J, van Stralen KJ, Kim JJ, Tizard EJ.
Pediatr Nephrol. 2012 Mar;27(3):363-73. doi: 10.1007/s00467-011-1939-1. Epub 2011 Jun 29.
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes.
Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4.
Hereditary interstitial kidney disease.
Bleyer AJ, Hart PS, Kmoch S.
Semin Nephrol. 2010 Jul;30(4):366-73. doi: 10.1016/j.semnephrol.2010.06.003.
Alport syndrome and Alport kidney diseases - elucidating the disease spectrum.
Puapatanakul P, Miner JH.
Curr Opin Nephrol Hypertens. 2024 May 1;33(3):283-290. doi: 10.1097/MNH.0000000000000983. Epub 2024 Mar 13.
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
KDIGO Conference Participants.
Kidney Int. 2022 Jun;101(6):1126-1141. doi: 10.1016/j.kint.2022.03.019. Epub 2022 Apr 20.
Hereditary polycystic kidney disease: genetic diagnosis and counseling.
Whittle M, Simões R; Sociedade Brasileira de Genética Médica.
Rev Assoc Med Bras (1992). 2014 Mar-Apr;60(2):98-102. doi: 10.1590/1806-9282.60.01.004.
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Bullich G, Domingo-Gallego A, Vargas I, Ruiz P, Lorente-Grandoso L, Furlano M, Fraga G, Madrid Á, Ariceta G, Borregán M, Piñero-Fernández JA, Rodríguez-Peña L, Ballesta-Martínez MJ, Llano-Rivas I, Meñica MA, Ballarín J, Torrents D, Torra R, Ars E.
Kidney Int. 2018 Aug;94(2):363-371. doi: 10.1016/j.kint.2018.02.027. Epub 2018 May 22.
Polycystic Kidney Disease.
Ghata J, Cowley BD Jr.
Compr Physiol. 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018.
Multiomics profiling of mouse polycystic kidney disease progression at a single-cell resolution.
Muto Y, Yoshimura Y, Wu H, Chang-Panesso M, Ledru N, Woodward OM, Outeda P, Cheng T, Mahjoub MR, Watnick TJ, Humphreys BD.
Proc Natl Acad Sci U S A. 2024 Oct 22;121(43):e2410830121. doi: 10.1073/pnas.2410830121. Epub 2024 Oct 15.
