The European Rare Kidney Disease Reference Network


Journal Watch

Renal malformations and ciliopathies

Imaging surveillance for children with predisposition to renal tumors.
Author(s): Srinivasan AS, Saade-Lemus S, Servaes SE, Acord MR, Reid JR, Anupindi SA, States LJ
Source: Pediatr Radiol 2019 Oct;49(11):1453-1462
Publication date: 2019-10
Medullary Sponge Kidney: Current Perspectives.
Author(s): Imam TH, Patail H, Patail H
Source: Int J Nephrol Renovasc Dis 2019;12:213-218
Publication date: 2019
Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.
Author(s): Cormican S, Connaughton DM, Kennedy C, Murray S, Živná M, Kmoch S, Fennelly NK, O'Kelly P, Benson KA, Conlon ET, Cavalleri G, Foley C, Doyle B, Dorman A, Little MA, Lavin P, Kidd K, Bleyer AJ, Conlon PJ
Source: Ren Fail 2019 Nov;41(1):832-841
Publication date: 2019-11
Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q 12 microdeletion syndrome?
Author(s): Vasileiou G, Hoyer J, Thiel CT, Schaefer J, Zapke M, Krumbiegel M, Kraus C, Zweier M, Uebe S, Ekici AB, Schneider M, Wiesener M, Rauch A, Faschingbauer F, Reis A, Zweier C, Popp B
Source: Prenat Diagn 2019 Sep 9;
Publication date: 2019-09-9
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.
Author(s): Herlin MK, Le VQ, Højland AT, Ernst A, Okkels H, Petersen AC, Petersen MB, Pedersen IS
Source: Hum Reprod 2019 Sep 29;34(9):1838-1846
Publication date: 2019-09-29
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