Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report
BMC Pediatrics, 2020 Background Bartter syndrome subtypes are a group of rare renal tubular diseases characterized by impaired salt reabsorption in the tubule, specifically the thick ascending limb of Henle’s loop.
Subhrata Verma +3 more
doaj +1 more source
, 2013 Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia.
Costa, F +3 more
core +1 more source
The Diverse Genetic Landscape of Hearing Impairment in South African Families
Clinical Genetics, Volume 108, Issue 5, Page 511-520, November 2025.South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj +10 more
wiley +1 more source
Bartter syndrome: causes, diagnosis, and treatment
International Journal of Nephrology and Renovascular Disease, 2018 Tamara da Silva Cunha, Ita Pfeferman Heilberg Nephrology Division, Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina, São Paulo, Brazil Abstract: Bartter syndrome is an inherited renal tubular disorder caused by a ...
Cunha TDS, Heilberg IP
doaj
Juxtaglomerular apparatus hyperplasia under dual angiotensin blockade. A footprint of adequate RAS inhibition or a concern for renal fibrosis? [PDF]
, 2012 Background: Dual renin-angiotensin system blockade with angiotensin-converting enzyme inhibitors and angiotensin receptor blockers has been advocated to minimize proteinuria. However, recent trials have questioned the renal safety of this approach.
Barat, Antonio +5 more
core +4 more sources
Inappropriate Antidiuresis: Examples of an Hyponatremic Syndrome Resembling Exogenous Vasopressin Administration in Man [PDF]
, 1966 We have reviewed some of the features of hyponatremic syndromes, unassociated with sodium retention and edema, but associated with primary water retention.
Bower, John D. +4 more
core +1 more source
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea [PDF]
, 2017 Objectives: We aimed to improve the knowledge of pathogenic mutations in sporadic cases of congenital chloride diarrhea (CCD) and emphasize the importance of functional studies to define the effect of novel mutations.
Amato, Felice +13 more
core +1 more source
Cardiac arrhythmias and rhabdomyolysis in Bartter-Gitelman patients [PDF]
, 2018 Recent data demonstrate that patients affected with hypokalemic salt-losing tubulopathies are prone to acute cardiac arrhythmias and rhabdomyolysis. The tendency to these potentially fatal complications is especially high if chronic hypokalemia is severe,
Bettinelli, Alberto +6 more
core
Anaesthesia for laparoscopic cholecystectomy in Bartter′s syndrome
Indian Journal of Anaesthesia, 2010 Bartter′s syndrome is a rare inherited anamoly with defect in the thick segment of the ascending limb of the loop of Henle, with reduced reabsorption of potassium.
Bala S Bhaskar +4 more
doaj +1 more source
Role of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscle. [PDF]
, 2016 Electrical membrane properties of skeletal muscle fibers have been thoroughly studied over the last five to six decades. This has shown that muscle fibers from a wide range of species, including fish, amphibians, reptiles, birds, and mammals, are all ...
Chen, Tsung-Yu +4 more
core +1 more source