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.
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.
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ.
Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9.
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 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.
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.
Polycystic Kidney Disease.
Ghata J, Cowley BD Jr.
Compr Physiol. 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018.
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.
Popp B, Ekici AB, Knaup KX, Schneider K, Uebe S, Park J, Bafna V, Meiselbach H, Eckardt KU, Schiffer M, Reis A, Kraus C, Wiesener M.
Eur J Hum Genet. 2022 Dec;30(12):1413-1422. doi: 10.1038/s41431-022-01177-9. Epub 2022 Sep 13.
