Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion [PDF]
, 2013 Our study investigated the association of rare allelic variants with extremes of 24-hour urinary calcium excretion because higher urinary calcium excretion is a dominant risk factor for calcium-based kidney stone formation.
Curhan, Gary C. +4 more
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A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane. [PDF]
PLoS ONE, 2008 BACKGROUND: ClC-Kb and ClC-Ka are homologous chloride channels that facilitate chloride homeostasis in the kidney and inner ear. Disruption of ClC-Kb leads to Bartter's Syndrome, a kidney disease.
Gilbert Q Martinez, Merritt Maduke
doaj +1 more source
Anaesthesia for emergency caesarean section in a patient with Gitelman syndrome
Indian Journal of Anaesthesia, 2020 Gitelman syndrome is a rare autosomal recessive salt-losing disorder of renal tubules, which results in hypokalemic metabolic alkalosis. Associated hypomagnesaemia and hypocalcaemia are also seen.
Sarath Venugopalan +3 more
doaj +1 more source
Atypical presentation of cystic fibrosis: Obese adolescent with hypertension and pseudo-Bartter’s syndrome [PDF]
Vojnosanitetski Pregled, 2012 Introduction. Infants with cystic fibrosis may fail to thrive despite recommended caloric intake because of electrolyte disurbances caused by salt depletion resulting in hypochloremic metabolic alkalosis or pseudo-Bartter's syndrome.
Sovtić Aleksandar +5 more
doaj +1 more source
Síndrome de Bartter: evaluación del desarrollo estatural y perfil metabólico [PDF]
, 2011 OBJECTIVE: Bartter's syndrome is one of the most important inherited diseases that cause chloride leak. The objective of this study was to report the follow-up of ten patients with the syndrome.
Andrade, Maria Cristina de +4 more
core +3 more sources
Clinical and diagnostic features of Bartter and Gitelman syndromes [PDF]
, 2017 Background: Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management.
Ashton, E +8 more
core +1 more source
Bartter syndrome-like phenotype in a patient with diabetes: a case report
Journal of Medical Case Reports, 2018 Background Bartter’s syndrome is a rare genetic tubulopathy affecting the loop of Henle leading to salt wasting. It is commonly seen in utero or in early neonatal period.
Chamara Dalugama +2 more
doaj +1 more source
The role of renal transporters and novel regulatory interactions in the TAL that control blood pressure [PDF]
, 2017 Hypertension (HTN), a major public health issue is currently the leading factor in the global burden of disease, where associated complications account for 9.4 million deaths worldwide every year (98).
Dominiczak, Anna +2 more
core +1 more source
Pharmaceutics, 2022 Spironolactone (SPL), a potent anti-aldosterone steroidal drug used to treat several diseases in paediatric patients (e.g., hypertension, primary aldosteronism, Bartter’s syndrome, and congestive heart failure), is not available in child-friendly dosage ...
Antonio Lopalco +8 more
doaj +1 more source
Diseases associated with calcium-sensing receptor [PDF]
, 2017 The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion.
A. Jannin +6 more
core +1 more source