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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Main Authors: | Gianluca Vergine (Author), Elena Fabbri (Author), Annalisa Pedini (Author), Silvana Tedeschi (Author), Niccolò Borsa (Author) |
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Format: | Book |
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Hindawi Limited,
2018-01-01T00:00:00Z.
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Online Access: | Connect to this object online. |
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