[HTML][HTML] 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 …

[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 …

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 …

[HTML][HTML] Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene

A Al-Shibli, M Yusuf, I Abounajab, PJ Willems - Springerplus, 2014 - Springer
Patients with renal diseases associated with salt-losing tubulopathies categorized as
Gitelman and classic form of Bartter syndrome have undergone genetic screening for …

[PDF][PDF] DNA Analysis of Renal Electrolyte Transporter Genes Among Patients Suffering from Bartter and Gitelman Syndromes- Summary of Mutation Screening

M Urbanová, J Reiterová, J Stekrova, P Lnenicka… - Folia Biologica …, 2011 - fb.cuni.cz
Patients with renal diseases associated with salt-losing tubulopathies categorized as
Gitelman and classic form of Bartter syndrome have undergone genetic screening for …

Gitelman's syndrome is genetically distinct from other forms of Bartter's syndrome

L Károlyi, A Ziegler, M Pollak, M Fischbach… - Pediatric …, 1996 - Springer
In the past the term Bartter's syndrome has been used to describe a spectrum of inherited
renal tubular disorders with hypokalemic metabolic alkalosis and overlapping and additional …

[HTML][HTML] 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 …

Hypokalaemic salt-losing tubulopathies: an evolving story

I Zelikovic - Nephrology Dialysis Transplantation, 2003 - academic.oup.com
Bartter syndrome, first described in 1962 [1], is a group of closely related hereditary
tubulopathies. All variants of the syndrome share several clinical characteristics including …

Severe hyponatraemia and hypouricaemia in Gitelman's syndrome

H Schepkens, J Stubbe, H Hoeben… - Nephrology Dialysis …, 2001 - academic.oup.com
Gitelman's syndrome (GS) is a variant of classical Bartter's syndrome (BS) in adults
characterized by hypokalaemic metabolic alkalosis, hypocalciuria (daily excretion-2.0 …

[HTML][HTML] Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life

DN Cruz, AJ Shaer, MJ Bia, RP Lifton, DB Simon - Kidney international, 2001 - Elsevier
Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life.
Background Gitelman's syndrome (GS), also called Gitelman's variant of Bartter's syndrome …