ERKNet

The European Rare Kidney Disease Reference Network

  

Journal Watch

Tubulopathies

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.
Author(s): Najafi M, Kordi-Tamandani DM, Behjati F, Sadeghi-Bojd S, Bakey Z, Karimiani EG, Schüle I, Azarfar A, Schmidts M
Source: Orphanet J Rare Dis 2019 Feb 13;14(1):41
Publication date: 2019-02-13
Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts.
Author(s): Beara-Lasic L, Cogal A, Mara K, Enders F, Mehta RA, Haskic Z, Furth SL, Trachtman H, Scheinman SJ, Milliner DS, Goldfarb DS, Harris PC, Lieske JC
Source: Pediatr Nephrol 2019 Mar 10;
Publication date: 2019-03-10
Treatment and long-term outcome in primary distal renal tubular acidosis.
Author(s): Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D, Kleta R, Schaefer F, Bockenhauer D
Source: Nephrol Dial Transplant 2019 Feb 18;
Publication date: 2019-02-18
Fluconazole as a New Therapeutic Tool to Manage Patients With NPTIIc (SLC34A3) Mutation: A Case Report.
Author(s): Bertholet-Thomas A, Tram N, Dubourg L, Lemoine S, Molin A, Bacchetta J
Source: Am J Kidney Dis 2019 Feb 11;
Publication date: 2019-02-11
A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia.
Author(s): Yang W, Zhao S, Xie Y, Mo Z
Source: BMC Nephrol 2018 Dec 17;19(1):362
Publication date: 2018-12-17
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