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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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2018/9175271 |
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| author | Gianluca Vergine Elena Fabbri Annalisa Pedini Silvana Tedeschi Niccolò Borsa |
| author_facet | Gianluca Vergine Elena Fabbri Annalisa Pedini Silvana Tedeschi Niccolò Borsa |
| author_sort | Gianluca Vergine |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2e89d15cfa584459b16c45fe04b8a5a1 |
| institution | OA Journals |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-2e89d15cfa584459b16c45fe04b8a5a12025-08-20T02:38:51ZengWileyCase Reports in Pediatrics2090-68032090-68112018-01-01201810.1155/2018/91752719175271Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes InsipidusGianluca Vergine0Elena Fabbri1Annalisa Pedini2Silvana Tedeschi3Niccolò Borsa4Department of Pediatrics, Infermi Hospital, Rimini, ItalyDepartment of Pediatrics, Infermi Hospital, Rimini, ItalyDepartment of Pediatrics, Infermi Hospital, Rimini, ItalyMedical Genetics Laboratory, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, ItalyMedical Genetics Laboratory, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, ItalyBartter 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.http://dx.doi.org/10.1155/2018/9175271 |
| spellingShingle | Gianluca Vergine Elena Fabbri Annalisa Pedini Silvana Tedeschi Niccolò Borsa Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus Case Reports in Pediatrics |
| title | Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus |
| title_full | Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus |
| title_fullStr | Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus |
| title_full_unstemmed | Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus |
| title_short | Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus |
| title_sort | bartter syndrome type 1 presenting as nephrogenic diabetes insipidus |
| url | http://dx.doi.org/10.1155/2018/9175271 |
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