Journal Watch

Tubulopathies

Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model.
Author(s): Gliozzi ML, Espiritu EB, Shipman KE, Rbaibi Y, Long KR, Roy N, Duncan AW, Lazzara MJ, Hukriede NA, Baty CJ, Weisz OA
Source: J Am Soc Nephrol 2019 Nov 1;
Publication date: 2019-11-1
Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia.
Author(s): Lorenz R, Ahting U, Betzler C, Heimering S, Borggräfe I, Lange-Sperandio B
Source: Nephron 2019 Nov 13;:1-5
Publication date: 2019-11-13
Identification of Acer2 as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice.
Author(s): de Groot T, Ebert LK, Christensen BM, Andralojc K, Cheval L, Doucet A, Mao C, Baumgarten R, Low BE, Sandhoff R, Wiles MV, Deen PMT, Korstanje R
Source: J Am Soc Nephrol 2019 Sep 26;
Publication date: 2019-09-26
HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.
Author(s): Adalat S, Hayes WN, Bryant WA, Booth J, Woolf AS, Kleta R, Subtil S, Clissold R, Colclough K, Ellard S, Bockenhauer D
Source: Kidney Int Rep 2019 Sep;4(9):1304-1311
Publication date: 2019-09
Description of 5 Novel SLC34A3/NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria.
Author(s): Chen A, Ro H, Mundra VRR, Joseph K, Brenner D, Carpenter TO, Rizk DV, Bergwitz C
Source: Kidney Int Rep 2019 Aug;4(8):1179-1186
Publication date: 2019-08
Mineralized tissues in hypophosphatemic rickets.
Author(s): Robinson ME, AlQuorain H, Murshed M, Rauch F
Source: Pediatr Nephrol 2019 Aug 8;
Publication date: 2019-08-8
Familial hyperkalemia and hypertension and a hypothesis to explain proximal renal tubular acidosis.
Author(s): Farfel Z, Mayan H, Karlish SJD
Source: Proc Natl Acad Sci U S A 2019 Aug 13;116(33):16173-16174
Publication date: 2019-08-13
Prevalence of distal renal tubular acidosis in patients with calcium phosphate stones.
Author(s): Guimerà J, Martínez A, Tubau V, Sabate A, Bauza JL, Rios A, Lopez M, Piza P, Grases F, Pieras E
Source: World J Urol 2019 May 11;
Publication date: 2019-05-11
Distal renal tubular acidosis: genetic causes and management.
Author(s): Soares SBM, de Menezes Silva LAW, de Carvalho Mrad FC, Simões E Silva AC
Source: World J Pediatr 2019 May 11;
Publication date: 2019-05-11
Partial nephrogenic diabetes insipidus associated with Castleman's disease.
Author(s): Kim M, Choi HS, Bae EH, Ma SK, Kim SW, Kim CS
Source: BMC Nephrol 2019 May 14;20(1):168
Publication date: 2019-05-14
New insights into the transcriptional regulation of aquaporin-2 and the treatment of X-linked hereditary nephrogenic diabetes insipidus.
Author(s): Jung HJ, Kwon TH
Source: Kidney Res Clin Pract 2019 Jun 30;38(2):145-158
Publication date: 2019-06-30
A novel CLDN16 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis
.
Author(s): Zhang H, Ling C, Liu X
Source: Clin Nephrol 2019 Jun 24;
Publication date: 2019-06-24
Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH).
Author(s): Rothenbuhler A, Schnabel D, Högler W, Linglart A
Source: Metabolism 2019 Mar 27;
Publication date: 2019-03-27
Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice.
Author(s): Salerno EE, Patel SP, Marshall A, Marshall J, Alsufayan T, Mballo CSA, Quade BN, Parker MD
Source: J Am Soc Nephrol 2019 Apr 30;
Publication date: 2019-04-30
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
Author(s): Han Y, Zhao X, Wang S, Wang C, Tian D, Lang Y, Bottillo I, Wang X, Shao L
Source: Endocrine 2019 Feb 21;
Publication date: 2019-02-21
Growth hormone deficiency in children with antenatal Bartter syndrome.
Author(s): Spector-Cohen I, Koren A, Sakran W, Tenenbaum-Rakover Y, Halevy R
Source: J Pediatr Endocrinol Metab 2019 Mar 26;32(3):225-231
Publication date: 2019-03-26
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.
Author(s): Halperin D, Dolgin V, Geylis M, Drabkin M, Yogev Y, Wormser O, Schreiber R, Shalev H, Landau D, Birk OS
Source: Ann Hum Genet 2019 Apr 12;
Publication date: 2019-04-12
Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome.
Author(s): Kong Y, Xu K, Yuan K, Zhu J, Gu W, Liang L, Wang C
Source: BMC Pediatr 2019 Apr 18;19(1):114
Publication date: 2019-04-18
A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect.
Author(s): Fanis P, Efstathiou E, Neocleous V, Phylactou LA, Hadjipanayis A
Source: J Genet 2019 Mar;98(1)
Publication date: 2019-03
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
Effect of nonsteroidal anti-inflammatory drugs in children with Bartter syndrome.
Author(s): Gasongo G, Greenbaum LA, Niel O, Kwon T, Macher MA, Maisin A, Baudouin V, Dossier C, Deschênes G, Hogan J
Source: Pediatr Nephrol 2018 Nov 13;
Publication date: 2018-11-13
Bartter Syndrome and GH Deficiency: three siblings with a novel CLCNKB mutation.
Author(s): Brambilla I, Poddighe D, Mantelli SS, Guarracino C, Marseglia GL
Source: Pediatr Int 2018 Nov 2;
Publication date: 2018-11-2
Vps34/PI3KC3 deletion in kidney proximal tubules impairs apical trafficking and blocks autophagic flux, causing a Fanconi-like syndrome and renal insufficiency.
Author(s): Grieco G, Janssens V, Gaide Chevronnay HP, N'Kuli F, Van Der Smissen P, Wang T, Shan J, Vainio S, Bilanges B, Jouret F, Vanhaesebroeck B, Pierreux CE, Courtoy PJ
Source: Sci Rep 2018 Sep 20;8(1):14133
Publication date: 2018-09-20
Liquorice, Liddle, Bartter or Gitelman-how to differentiate?
Author(s): Mumford E, Unwin RJ, Walsh SB
Source: Nephrol Dial Transplant 2018 Jul 2;
Publication date: 2018-07-2
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.
Author(s): Ayasreh N, Bullich G, Miquel R, Furlano M, Ruiz P, Lorente L, Valero O, García-González MA, Arhda N, Garin I, Martínez V, Pérez-Gómez V, Fulladosa X, Arroyo D, Martínez-Vea A, Espinosa M, Ballarín J, Ars E, Torra R
Source: Am J Kidney Dis 2018 May 18;
Publication date: 2018-05-18
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.
Author(s): Alonso-Varela M, Gil-Peña H, Coto E, Gómez J, Rodríguez J, Rodríguez-Rubio E, Santos F
Source: Pediatr Nephrol 2018 May 3;
Publication date: 2018-05-3



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