Electrolyte Replacement in Bartter Syndrome With Abnormal Small Bowel: A Case Report
Journal of Investigative Medicine High Impact Case Reports, 2020 Bartter syndrome is a rare disorder that is characterized by weakness and fatigue with laboratory findings of hypokalemia and metabolic alkalosis with increased aldosterone and angiotensin.
Philip T. Sobash MD +3 more
doaj +1 more source
Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a 7‐Year‐Old Girl: A Case Report
Clinical Case Reports, Volume 13, Issue 12, December 2025.ABSTRACT Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive renal tubular disorder, caused by mutations in the Claudin‐16 or Claudin‐19 genes. It is characterized by renal wasting of calcium and magnesium, bilateral nephrocalcinosis, and progression to kidney failure eventually.
Rummana Tazia Tonny +3 more
wiley +1 more source
An infant with poor weight gain and hypochloremic metabolic alkalosis: a case report
International Journal of General Medicine, 2014 Ahmed H Alhammadi, Mohamed Khalifa, Lolwa Alnaimi Department of Pediatrics, Division of General Pediatrics, Hamad Medical Corporation, Doha, Qatar Abstract: Bartter syndrome is an autosomal recessive disease manifested by a defect in chloride transport ...
Alhammadi AH, Khalifa M, Alnaimi L
doaj
Metabolic alkalosis with multiple salt unbalance: an atypical onset of cystic fibrosis in a child
Journal of Pediatric and Neonatal Individualized Medicine, 2017 Dehydration with multiple salt abnormalities is frequently encountered in the paediatric emergency department, during acute illnesses complicated by loss of body fluids. Metabolic alkalosis is not a common finding in dehydrated children.
Dimitri Poddighe +4 more
doaj +1 more source
Chronic hyponatremia in a patient with renal salt wasting and without cerebral disease: relationship between RSW, risk of fractures and cognitive impairment [PDF]
, 2018 Renal salt wasting syndrome (RSW) is defined as a renal loss of sodium leading to hyponatremia and a decrease in extracellular fluid volume (ECV). Differentiation of this disorder from the syndrome of inappropriate antidiuretic hormone secretion (SIADH),
Della Corte V. +3 more
core +1 more source
A large‐scale evolutionary and structural analysis of CLC channels and transporters
Protein Science, Volume 34, Issue 12, December 2025.Abstract The CLC family of membrane proteins consists of chloride channels and anion/proton antiporters. How the same fold accommodates two distinct mechanisms remains poorly understood, and the small set of experimental structures provides limited insight.
Ayush Mishra +2 more
wiley +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
Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations [PDF]
, 2019 In higher organisms, epithelia separate compartments in order to guarantee their proper function. Such structures are able to seal but also to allow substances to pass.
Fernández-Rodríguez, Cármen +3 more
core +1 more source
The Concise Guide to PHARMACOLOGY 2025/26: G protein‐coupled receptors
British Journal of Pharmacology, Volume 182, Issue S1, Page S24-S151, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +206 more
wiley +1 more source
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
PLoS ONE, 2017 Introduction Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb.
Alejandro García Castaño +17 more
semanticscholar +1 more source