| Congenital chloride diarrhea misdiagnosed as Bartter syndrome. | |
| | |
MedLine Citation:
|
PMID: 21805424 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
Congenital chloride diarrhea is the most frequent secretory-type diarrhea during the infantile period in the presence of normal intestinal mucosa. The disease has an autosomal recessive inheritance. Although approximately half of the reported cases to date are from Finland, a much higher incidence has been reported among Arabic people. The defective gene is SLC26A3, which encodes a Na-independent CL/HCO3 exchanger that is expressed primarily in the apical brush border membrane of ileal enterocytes and colonic epithelium. The disease is characterized by dehydration and hypochloremic metabolic alkalosis. Bartter syndrome, cystic fibrosis and pyloric stenosis also lead to similar electrolyte disturbances in the early neonatal period. The diagnosis of congenital chloride diarrhea can be confirmed by measuring the fecal concentration of Cl, which always exceeds 90 mmol/L in patients with normal water and electrolyte balance. Here, we report a patient with congenital chloride diarrhea misdiagnosed as Bartter syndrome until 20 months of age. |
| | |
Authors:
|
Odül Eğrıtaş; Buket Dalgiç; Satu Wedenoja |
Related Documents
:
|
1536174 - Variability of stickler syndrome. 7192194 - Familial williams syndrome. 4028504 - The groll-hirschowitz syndrome. 16691594 - Autosomal dominant syndrome resembling coffin-siris syndrome. 3161204 - Pulmonary changes in congenital heart disease with down's syndrome: their significance ... 7947544 - The lax eyelid syndrome. |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology Volume: 22 ISSN: 1300-4948 ISO Abbreviation: Turk J Gastroenterol Publication Date: 2011 Jun |
Date Detail:
|
Created Date: 2011-08-01 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9515841 Medline TA: Turk J Gastroenterol Country: Turkey |
Other Details:
|
Languages: eng Pagination: 321-3 Citation Subset: IM |
Affiliation:
|
Gazi University, School of Medicine, Department of Pediatric Gastroenterology, Ankara, Turkey. odulmd2003@yahoo.com. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Electrocardiographic changes and importance of repolarization changes in cases with acute pancreatit...
Next Document: Primary intestinal diffuse large B-cell lymphoma forming multiple lymphomatous polyposis.