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Quoted phrase not found in phrase index: "Bartter disease type 2"
Page 1
Nephrogenic diabetes insipidus.
Bockenhauer D, Bichet DG. Bockenhauer D, et al. Curr Opin Pediatr. 2017 Apr;29(2):199-205. doi: 10.1097/MOP.0000000000000473. Curr Opin Pediatr. 2017. PMID: 28134709 Review.
RECENT FINDINGS: MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome.We distinguish two types of hereditary NDI: a 'pure' type with loss of water only and a complex type with …
RECENT FINDINGS: MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter …
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster N, Erger F, Kohl S, Reusch B, Wenzel A, Walsh S, Thiele H, Becker C, Franitza M, Bartram MP, Kömhoff M, Schumacher L, Kukat C, Borodina T, Quedenau C, Nürnberg P, Rinschen MM, Driller JH, Pedersen BP, Schlingmann KP, Hüttel B, Bockenhauer D, Beck B, Altmüller J. Tschernoster N, et al. Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1. Genome Med. 2023. PMID: 37612755 Free PMC article.
Structural variants occur more frequently in regions with a high homology or repetitive segments, and one rearrangement may predispose to additional events. Bartter syndrome type 3 (BS 3) is a monogenic tubulopathy caused by deleterious variants in the chlori …
Structural variants occur more frequently in regions with a high homology or repetitive segments, and one rearrangement may predispose to ad …
NKCC1: Newly Found as a Human Disease-Causing Ion Transporter.
Koumangoye R, Bastarache L, Delpire E. Koumangoye R, et al. Function (Oxf). 2021;2(1):zqaa028. doi: 10.1093/function/zqaa028. Epub 2020 Nov 3. Function (Oxf). 2021. PMID: 33345190 Free PMC article. Review.
The closely related SLC12A transporters, NKCC2 and NCC have been identified some 25 years ago as responsible for Bartter and Gitelman syndromes: two renal-dependent salt wasting disorders. Absence of disease was most surprising since the NKCC1 knockout mouse was sho …
The closely related SLC12A transporters, NKCC2 and NCC have been identified some 25 years ago as responsible for Bartter and Gitelman …
Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure.
Ariceta G, Rodríguez-Soriano J. Ariceta G, et al. Semin Nephrol. 2006 Nov;26(6):422-33. doi: 10.1016/j.semnephrol.2006.10.002. Semin Nephrol. 2006. PMID: 17275579 Review.
Two common hallmarks in affected individuals: hypokalemia and normal / high blood pressure, support the differential diagnosis. Bartter's syndrome, characterized by hypokalemia and normal blood pressure, is a heterogenic disease caused by the loss of function …
Two common hallmarks in affected individuals: hypokalemia and normal / high blood pressure, support the differential diagnosis. Bartter …
Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy.
Garcia-Nieto VM, Claverie-Martin F, Moraleda-Mesa T, Perdomo-Ramírez A, Fraga-Rodríguez GM, Luis-Yanes MI, Ramos-Trujillo E; Grupo RenalTube. Garcia-Nieto VM, et al. Nefrologia (Engl Ed). 2024 Jan-Feb;44(1):23-31. doi: 10.1016/j.nefroe.2024.02.003. Epub 2024 Feb 12. Nefrologia (Engl Ed). 2024. PMID: 38350738 Free article. Review.
In this paper, we review the initial description, the clinical expressiveness and etiology of four of the first hypomagnesemic tubulopathies described: type 3 Bartter and Gitelman diseases, Autosomal recessive hypomagnesemia with secondary hypocalcemia and Familial …
In this paper, we review the initial description, the clinical expressiveness and etiology of four of the first hypomagnesemic tubulopathies …
Long-term follow-up of patients with Bartter syndrome type I and II.
Puricelli E, Bettinelli A, Borsa N, Sironi F, Mattiello C, Tammaro F, Tedeschi S, Bianchetti MG; Italian Collaborative Group for Bartter Syndrome. Puricelli E, et al. Nephrol Dial Transplant. 2010 Sep;25(9):2976-81. doi: 10.1093/ndt/gfq119. Epub 2010 Mar 10. Nephrol Dial Transplant. 2010. PMID: 20219833 Free article.
CONCLUSIONS: Patients with Bartter syndrome type I and II tend to present a satisfactory prognosis after a median follow-up of more than 10 years. Gallstones might represent a new complication of antenatal Bartter syndrome....
CONCLUSIONS: Patients with Bartter syndrome type I and II tend to present a satisfactory prognosis after a media …
Clinical characteristics of HNF1B-related disorders in a Japanese population.
Nagano C, Morisada N, Nozu K, Kamei K, Tanaka R, Kanda S, Shiona S, Araki Y, Ohara S, Matsumura C, Kasahara K, Mori Y, Seo A, Miura K, Washiyama M, Sugimoto K, Harada R, Tazoe S, Kourakata H, Enseki M, Aotani D, Yamada T, Sakakibara N, Yamamura T, Minamikawa S, Ishikura K, Ito S, Hattori M, Iijima K. Nagano C, et al. Clin Exp Nephrol. 2019 Sep;23(9):1119-1129. doi: 10.1007/s10157-019-01747-0. Epub 2019 May 27. Clin Exp Nephrol. 2019. PMID: 31131422
METHODS: We performed genetic screening of RCAD, CAKUT, and Bartter-like syndrome cases. Heterozygous variants or whole-gene deletions in HNF1B were detected in 33 cases (19 and 14, respectively). ...CONCLUSION: We present the clinical characteristics of HNF1B-relat …
METHODS: We performed genetic screening of RCAD, CAKUT, and Bartter-like syndrome cases. Heterozygous variants or whole-gene d …
Angiotensin II signaling via type 2 receptors in a human model of vascular hyporeactivity: implications for hypertension.
Calò LA, Schiavo S, Davis PA, Pagnin E, Mormino P, D'Angelo A, Pessina AC. Calò LA, et al. J Hypertens. 2010 Jan;28(1):111-8. doi: 10.1097/HJH.0b013e328332b738. J Hypertens. 2010. PMID: 19797979
OBJECTIVE: Angiotensin II (Ang II) signaling via type 1 receptor (AT1R) has been extensively characterized, whereas Ang II signaling via type 2 receptors (AT2R), although counteracts actions mediated by AT1R, is still not completely understood. ...METHODS: BS/GS and …
OBJECTIVE: Angiotensin II (Ang II) signaling via type 1 receptor (AT1R) has been extensively characterized, whereas Ang II signaling …
Diverse genotypical features and impacts on clinical course and severity of cystic fibrosis: early childhood experience.
Halicioglu O, Akman SA, Sutcuoglu S, Coker I. Halicioglu O, et al. Minerva Pediatr. 2011 Jun;63(3):169-75. Minerva Pediatr. 2011. PMID: 21654597
The aim of the study was to analyze the genotype and phenotype of 24 children with CF and to investigate the correlation between type of mutation in cystic fibrosis transmembrane conductance regulator (CFTR) protein gene and clinical manifestation of the disease. .. …
The aim of the study was to analyze the genotype and phenotype of 24 children with CF and to investigate the correlation between type …
A thiazide test for the diagnosis of renal tubular hypokalemic disorders.
Colussi G, Bettinelli A, Tedeschi S, De Ferrari ME, Syrén ML, Borsa N, Mattiello C, Casari G, Bianchetti MG. Colussi G, et al. Clin J Am Soc Nephrol. 2007 May;2(3):454-60. doi: 10.2215/CJN.02950906. Epub 2007 Mar 14. Clin J Am Soc Nephrol. 2007. PMID: 17699451
Although the diagnosis of Gitelman syndrome (GS) and Bartter syndrome (BS) is now feasible by genetic analysis, implementation of genetic testing for these disorders is still hampered by several difficulties, including large gene dimensions, lack of hot-spot …
Although the diagnosis of Gitelman syndrome (GS) and Bartter syndrome (BS) is now feasible by genetic analysis, impleme …
17 results