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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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wiley
2018-01-01
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| Serie: | Case Reports in Pediatrics |
| Accesso online: | http://dx.doi.org/10.1155/2018/9175271 |
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