Results 41 to 50 of about 725 (179)
Molecular Genetics of Bartter Syndrome [PDF]
, 2014 Bartter syndrome (BS) is a heterogeneous disorder, caused by mutations in several genes which mostly encode proteins involved in ions transportation across renal cells in the thick ascending limb of the nephron.
Behnam, Babak, Fazilaty, Hassan
core +2 more sources
BMC Nephrology, 2019 Background Diabetic nephropathy is a global common cause of chronic kidney disease and end-stage renal disease. A lot of research has been conducted in biomedical sciences, which has enhanced understanding of the pathophysiology of diabetic nephropathy ...
Eduardo De la Cruz-Cano +7 more
doaj +1 more source
Renal tubular function in children and adolescents with Gitelnian's syndrome, the hypocalciuric variant of Bartter's syndrome [PDF]
, 2017 Renal tubular function was studied in 14 patients with Gitelman's syndrome and 14 control subjects. Apart from the biochemical hallmarks of Gitelman's syndrome, namely alkalaemia, hyperbi carbonataemia, hypokalaemia, hypomagnesaemia (with increased ...
Basilico, E. +5 more
core
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Molecular Characterization of A Novel Mutation In The Renal NaCl Cotransporter Causing Gitelman's Syndrome By Impairing Transporter Trafficking [PDF]
, 2017 Mutations affecting the sodium-chloride cotransporter (NCC) in the distal convoluted tubule of the nephron are causative of Gitelman's syndrome (GS), a rare autosomal recessive disease characterized by electrolytic alterations similar to those induced by
Ravarotto, Verdiana
core +1 more source
Analysis of Kif5b Expression during Mouse Kidney Development [PDF]
, 2015 published_or_final_versio
Cui, J +10 more
core +3 more sources
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Bartter syndrome (BS) is a rare autosomal recessive salt‐wasting tubulopathy characterized by hypokalemic metabolic alkalosis, hyperreninemia, and hyperaldosteronism without hypertension. It usually presents in childhood; however, adult‐onset cases are infrequent and often misdiagnosed.
Muhammad Asif +7 more
wiley +1 more source
ACR Open Rheumatology, Volume 8, Issue 3, March 2026.Objective The physician global assessment of lung disease (PGALD) is a recently proposed disease activity measure for patients with systemic juvenile idiopathic arthritis–associated lung disease (SJIA‐LD). This study evaluates the reliability and construct validity of the PGALD.
Eileen Rife +70 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. A 27‐year‐old woman presented with a witnessed syncopal episode, progressive weakness, and nausea.
Iyassu S. Melkie +5 more
wiley +1 more source
Gitelman Syndrome: A Case Report
Cureus, 2023 Gitelman syndrome is a rare hereditary tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. In this case report, we describe a 21-year-old male who presented with myalgias, asthenia, general muscle weakness, and hypokalemia after receiving oral potassium supplementation for six months.
Rocha, João +4 more
openaire +2 more sources