Clinical and genetic characterization of patients with bartter and gitelman syndrome

V Palazzo, V Raglianti, S Landini, L Cirillo… - International Journal of …, 2022 - mdpi.com
Bartter (BS) and Gitelman (GS) syndrome are autosomal recessive inherited tubulopathies,
whose clinical diagnosis can be challenging, due to rarity and phenotypic overlap. Genotype …

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics

N Matsunoshita, K Nozu, A Shono, Y Nozu, XJ Fu… - Genetics in …, 2016 - nature.com
Purpose: Phenotypic overlap exists among type III Bartter syndrome (BS), Gitelman
syndrome (GS), and pseudo-BS/GS (p-BS/GS), which are clinically difficult to distinguish. We …

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome

N Matsunoshita, K Nozu, M Yoshikane… - Journal of Human …, 2018 - nature.com
Abstract Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically
heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or …

[HTML][HTML] Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations

A Al Shibli, H Narchi - World journal of methodology, 2015 - ncbi.nlm.nih.gov
Bartter and Gitelman syndromes (BS and GS) are inherited disorders resulting in defects in
renal tubular handling of sodium, potassium and chloride. Previously considered as …

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3

A García-Castaño, S Gómez-Conde, L Gondra… - Scientific Reports, 2023 - nature.com
Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic
metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis …

Molecular basis, diagnostic challenges and therapeutic approaches of bartter and gitelman syndromes: a primer for clinicians

L Nuñez-Gonzalez, N Carrera… - International Journal of …, 2021 - mdpi.com
Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of
renal tubulopathies. The genes associated with these pathologies encode electrolyte …

Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia

M Bao, J Cai, X Yang, W Ma - Clinical and Experimental …, 2019 - Taylor & Francis
Purpose: Bartter syndrome (BS) and Gitelman syndrome (GS) are hereditary diseases
characterized by hypokalemia with decreased or normal blood pressure (BP). However, BS …

Molecular pathogenesis of Bartter's and Gitelman's syndromes

I Kurtz, JJ Cohen, JT Harrington… - Kidney …, 1998 - kidney-international.org
DISCUSSION D r. I ra K urtz (Chief, Division of Nephrology, Max Factor Professor of
Medicine, Center for Health Sciences, UCLA School of Medicine, Los Angeles, California) …

Molecular pathophysiology of Bartter's and Gitelman's syndromes

E Koulouridis, I Koulouridis - World Journal of Pediatrics, 2015 - Springer
Background In the last two decades, progress in cytogenetic and genome research has
enabled investigators to unravel the underlying molecular mechanisms of inherited …

Genetic basis of Bartter syndrome in Korea

BH Lee, HY Cho, HK Lee, KH Han… - Nephrology Dialysis …, 2012 - academic.oup.com
Background. Bartter syndrome (BS) is clinically classified into antenatal or neonatal BS
(aBS) and classic BS (cBS) as well as five subtypes based on the underlying mutant gene; …