Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus
Joint Authors
Vergine, Gianluca
Fabbri, Elena
Pedini, Annalisa
Tedeschi, Silvana
Borsa, Niccolò
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-02-21
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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, encoding the furosemide-sensitive Na-K-Cl cotransporter.
Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis.
We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect.
In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.
American Psychological Association (APA)
Vergine, Gianluca& Fabbri, Elena& Pedini, Annalisa& Tedeschi, Silvana& Borsa, Niccolò. 2018. Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus. Case Reports in Pediatrics،Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1149255
Modern Language Association (MLA)
Vergine, Gianluca…[et al.]. Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus. Case Reports in Pediatrics No. 2018 (2018), pp.1-3.
https://search.emarefa.net/detail/BIM-1149255
American Medical Association (AMA)
Vergine, Gianluca& Fabbri, Elena& Pedini, Annalisa& Tedeschi, Silvana& Borsa, Niccolò. Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus. Case Reports in Pediatrics. 2018. Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1149255
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149255