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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Case Rep Pediatr
Egile Nagusiak: Vergine, Gianluca, Fabbri, Elena, Pedini, Annalisa, Tedeschi, Silvana, Borsa, Niccolò
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Hindawi 2018
Gaiak:
Case Report
Sarrera elektronikoa: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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