Journal Watch
Tubulopathies
Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.
Author(s): Thiele S, Werner R, Stubbe A, Hiort O, Hoeppner W Source: Eur J Endocrinol 2020 Nov;183(5):497-504 Publication date: 2020-11
X-Linked Hypophosphatemia: A New Era in Management.
Author(s): Dahir K, Roberts MS, Krolczyk S, Simmons JH Source: J Endocr Soc 2020 Dec 1;4(12):bvaa151 Publication date: 2020-12-1
Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay.
Author(s): Wang S, Wang Y, Wang J, Liu Z, Zhang R, Shi X, Han Y, Guo W, Bottillo I, Shao L Source: Front Genet 2020;11:585064 Publication date: 2020
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.
Author(s): Sheppard SE, Barrett B, Muraresku C, McKnight H, De Leon DD, Lord K, Ganetzky R Source: Am J Med Genet A 2020 Nov 30; Publication date: 2020-11-30
Novel Fanconi Renotubular Syndromes Provide Insights In Proximal Tubule Pathophysiology.
Author(s): Lemaire M Source: Am J Physiol Renal Physiol 2020 Dec 7; Publication date: 2020-12-7
Abnormal FDG Biodistribution in a Patient With Gitelman Syndrome.
Author(s): Yamamoto Y, Mitamura K, Norikane T, Fujimoto K, Takami Y, Nishiyama Y Source: Clin Nucl Med 2020 Dec 7; Publication date: 2020-12-7
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Author(s): Mori T, Chiga M, Fujimaru T, Kawamoto R, Mandai S, Nanamatsu A, Nomura N, Ando F, Susa K, Sohara E, Rai T, Uchida S Source: Hum Mutat 2020 Dec 21; Publication date: 2020-12-21
Outcome of primary tubular tubulopathies diagnosed in pediatric age.
Author(s): Blázquez Gómez CJ, Gil-Peña H, Ordóñez Álvarez FA, Santos Rodríguez F Source: Nefrologia 2020 Dec 21; Publication date: 2020-12-21
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
Author(s): Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, Papizh S, Yadav P, Reynolds BC, Decramer S, Besouw M, Perelló Carrascosa M, La Scola C, Trepiccione F, Ariceta G, Hummel A, Dossier C, Sayer JA, Konrad M, Keijzer-Veen MG, Awan A, Basu B, Chauveau D, Madariaga L, Koster-Kamphuis L, Furlano M, Zacchia M, Marzuillo P, Tse Y, Dursun I, Pinarbasi AS, Tramma D, Hoorn EJ, Gokce I, Nicholls K, Eid LA, Sartz L, Riordan M, Hooman N, Printza N, Bonny O, Arango Sancho P, Schild R, Sinha R, Guarino S, Martinez Jimenez V, Rodríguez Peña L, Belge H, Devuyst O, Wlodkowski T, Emma F, Levtchenko E, Knoers NVAM, Bichet DG, Schaefer F, Kleta R, Bockenhauer D Source: Nephrol Dial Transplant 2020 Dec 26; Publication date: 2020-12-26
Renal Tubular Acidosis and Management Strategies: A Narrative Review.
Author(s): Palmer BF, Kelepouris E, Clegg DJ Source: Adv Ther 2020 Dec 26; Publication date: 2020-12-26
Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives.
Author(s): Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, Castaño L, Madariaga L Source: Nefrologia 2020 Dec 29; Publication date: 2020-12-29
Kidney stones and moderate proteinuria as the rare manifestations of Gitelman syndrome.
Author(s): Chen Q, Wang X, Min J, Wang L, Mou L Source: BMC Nephrol 2021 Jan 7;22(1):12 Publication date: 2021-01-7
Novel SLC12A3 mutation in Gitelman syndrome.
Author(s): Veríssimo R, Leite de Sousa L, Carvalho TJ, Fidalgo P Source: BMJ Case Rep 2021 Jan 18;14(1) Publication date: 2021-01-18
Multi-centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children.
Author(s): Shen Q, Chen J, Yu M, Lin Z, Nan X, Dong B, Fang X, Chen J, Ding G, Zhang A, Gao C, Miao L, Xu Y, Jiang X, Bai H, Zhuang J, Gao X, Xu H Source: Clin Genet 2020 Dec 31; Publication date: 2020-12-31
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
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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 |