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Review article: the clinical management of congenital chloride diarrhoea » Isaúde
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Alimentary Pharmacology and Therapeutics
2009-11-11 12:30:00

Review article: the clinical management of congenital chloride diarrhoea

Descrição: Aliment Pharmacol Ther 31, 477[ndash]485Background Congenital chloride diarrhoea in a newborn is a medical emergency, requiring early diagnostics and treatment to prevent severe dehydration and infant mortality. While most of the 250 cases reported arise from Finland, Poland and Arab countries, single cases with this autosomal recessive disorder appear worldwide. Such congenital chloride diarrhoea rarity makes diagnosis difficult. Life-long salt substitution with NaCl and KCl stabilizes fluid, electrolyte and acid-base balance diagnosis. When properly treated, the long-term outcome is favourable.Aim To summarize data on congenital chloride diarrhoea diagnosis, pathophysiology and treatment, and to provide guidelines for both acute and long-term management of congenital chloride diarrhoea.Methods Data are based on MEDLINE search for 'chloride diarrhoea', in addition to clinical experience in the treatment of the largest known series of patients.Results Treatment of congenital chloride diarrhoea involves (i) life-long salt substitution; (ii) management of acute dehydration and hypokalaemia during gastroenteritis or other infections; and (iii) recognition and treatment of other manifestations of the disease, such as intestinal inflammation, renal impairment and male subfertility.Conclusions This review summarizes data on congenital chloride diarrhoea and provides guidelines for treatment. After being a mostly paediatric problem, adult patients constitute a rare challenge for gastroenterologists worldwide.

Identificador: 10.1111/j.1365-2036.2009.04197.x
Editorial: John Wiley & Sons, Inc.
Seção: Review article
Volume: 0
Página: 477 a 485

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