Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, enc...

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Bibliografiske detaljer
Udgivet i:Case Rep Pediatr
Main Authors: Vergine, Gianluca, Fabbri, Elena, Pedini, Annalisa, Tedeschi, Silvana, Borsa, Niccolò
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi 2018
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5841104/
https://ncbi.nlm.nih.gov/pubmed/29527380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/9175271
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