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 …
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 …
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 …
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 …
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 …
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 …
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 …
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) …
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 …
enabled investigators to unravel the underlying molecular mechanisms of inherited …
Genetic basis of Bartter syndrome in Korea
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; …
(aBS) and classic BS (cBS) as well as five subtypes based on the underlying mutant gene; …
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