Wedenoja S, Höglund P, Holmberg C
Review article: clinical management of congenital chloride diarrhea. [JOURNAL ARTICLE]
Aliment Pharmacol Ther 2009 Nov 11.
Abstract
Background: Congenital chloride diarrhea (CLD) in a newborn is a medical emergency requiring early diagnostics and treatment to prevent severe dehydration and infant mortality. Life-long salt substitution with NaCl and KCl stabilizes fluid, electrolyte and acid-base balance in this rare disease with chronic diarrhea. When properly treated, long-term outcome is favorable.
Aim: While most of the 250 cases reported arise from Finland, Poland, and Arabic countries, single cases with this autosomal recessive disorder appear worldwide. Such CLD infrequency makes diagnostics difficult. The aim of this review is to summarize data on CLD diagnosis, pathophysiology, and treatment, and provide guidelines for both acute and long-term management of CLD.
Methods: Data are based on MEDLINE search for "chloride diarrhea" in addition to clinical experience in treatment of the largest known series of patients.
Results: Treatment of CLD involves 1) life-long salt substitution, 2) management of acute dehydration and hypokalemia during gastroenteritis or other infections, and 3) recognition and treatment of other manifestations of the disease, such as intestinal inflammation, renal impairment, and male subfertility.
Conclusions: This review summarizes data on CLD and provides guidelines for treatment. After being a mostly pediatric problem, adult patients constitute a rare challenge for gastroenterologists worldwide.
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