| A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. | |
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MedLine Citation:
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PMID: 20680351 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Dent disease is an X-linked recessive disorder affecting the proximal tubule and is characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis/nephrolithiasis with a variable number of features of Fanconi syndrome. It is most often associated with mutations in CLCN5, which encodes the endosomal electrogenic chloride/proton exchanger ClC-5. Renal acidification abnormalities are only rarely seen in Dent disease, whereas the hypokalemic metabolic alkalosis associated with hyperreninemic hyperaldosteronism (Bartter-like syndrome) has been reported in only one patient so far. We report on a 5-year-old boy with Dent disease caused by mutation in CLCN5 gene, c.1073G>A, who presented with hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism persisting over the entire follow-up. No mutations were found in NKCC2, ROMK, NCCT, or ClC-Kb genes. In addition, the patient exhibited growth failure associated with partial growth hormone (GH) deficiency. Coexistence of Bartter-like syndrome features with LMWP should prompt a clinician to search for Dent disease. The Bartter syndrome phenotype seen in Dent disease patients may represent a distinct form of Bartter syndrome, the exact mechanism of which has yet to be fully elucidated. Growth delay that persists in spite of appropriate therapy should raise suspicion of other causes, such as GH deficiency. |
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Authors:
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Radovan Bogdanović; Markus Draaken; Alma Toromanović; Maja Dordević; Natasa Stajić; Michael Ludwig |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-08-01 |
Journal Detail:
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Title: Pediatric nephrology (Berlin, Germany) Volume: 25 ISSN: 1432-198X ISO Abbreviation: Pediatr. Nephrol. Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-09-13 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8708728 Medline TA: Pediatr Nephrol Country: Germany |
Other Details:
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Languages: eng Pagination: 2363-8 Citation Subset: IM |
Affiliation:
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The Institute of Mother and Child Healthcare of Serbia Dr Vukan Cupić, 8 Radoja Dakica Street, 11070, Belgrade, Serbia. maloun@eunet.rs |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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