Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2

@article{Simon1996BarttersSH,
  title={Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2},
  author={David B. Simon and Fiona E. Karet and Jahed M. Hamdan and Antonio Di Pietro and Sami A. Sanjad and Richard P. Lifton},
  journal={Nature Genetics},
  year={1996},
  volume={13},
  pages={183-188}
}
Inherited hypokalaemic alkalosis with low blood pressure can be divided into two groups — Gitelman's syndrome, featuring hypocalciuria, hypomagnesaemia and milder clinical manifestations, and Bartter's syndrome, featuring hypercalciuria and early presentation with severe volume depletion. Mutations in the renal Na–Cl cotransporter have been shown to cause Gitelman's syndrome. We demonstrate linkage of Bartter's syndrome to the renal Na–K–2Cl cotransporter gene NKCC2, and identify frameshift or… 
The Molecular Basis of Hypokalaemic Alkalosis: Bartter’s and Gitelman’s Syndromes
TLDR
The current cellular physiology and the related molecular basis accounting for the abnormalities described in Bartter's, Gitelman’s and like syndromes are summarized.
CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease.
TLDR
The first case of Dent’s disease due to a loss-of-function mutation in the CLCN5 gene, R347X, associated with a Bartter-like syndrome that is characterized by hypokalaemic metabolic alkalosis and secondary hyper-reninaemic hyperaldosteronism is described.
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  • Biology, Medicine
    The American journal of the medical sciences
  • 2001
TLDR
A comprehensive review of Bartter and Gitelman syndromes is provided and it is shown that the pathophysiology remains to be completely defined.
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TLDR
Examination of the ROMK gene reveals mutations that co–segregate with the disease and disrupt ROMK function in four Bartter's kindreds, establishing the genetic heterogeneity of Bartter’s syndrome and demonstrating the physiologic role of ROMK in vivo.
Gitelman's syndrome (familial hypokalemia-hypomagnesemia).
TLDR
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    American journal of kidney diseases : the official journal of the National Kidney Foundation
  • 2003
TLDR
By the molecular genetic analysis of these patients, 7 different mutations of the NCCT gene were identified consisting of 3 missense, 1 splice site, and 3 silent mutations, four of which were novel.
A new tubular disorder with hypokalaemic metabolic alkalosis, severe hypermagnesuric hypomagnesaemia, hypercalciuria and cardiomyopathy.
TLDR
A novel Bartter-like phenotype in a father–daughter pair is reported, characterized by hypokalaemic metabolic alkalosis secondary to renal chloride loss and severe hypomagnesaemia due to renal magnesium loss.
Identification of a novel R642C mutation in Na/Cl cotransporter with Gitelman's syndrome.
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    American journal of kidney diseases : the official journal of the National Kidney Foundation
  • 1999
Three cases of Gitelman's syndrome possibly caused by different mutations in the thiazide-sensitive Na-Cl cotransporter.
Three adult Japanese cases of Gitelman's syndrome were characterized by secondary aldosteronism, hypokalemic alkalosis, hypomagnesemia, and hypocalciuria. Two were revealed to be familial cases. A
Analysis of Claudin Genes in Pediatric Patients with Bartter's Syndrome
TLDR
The hypothesis that mutations in claudin genes may be involved in the altered magnesium and calcium transport in Bartter's syndrome, which is a constellation of symptoms characterized by hyper‐reninemic hypokalemia, metabolic alkalosis, elevated renin and aldosterone, low or normal blood pressure, and hyperplasia of the juxtaglomerular apparatus is tested.
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TLDR
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TLDR
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