Renal abnormalities in congenital chloride diarrhea.

Abstract

Congenital chloride diarrhea (CLD) is a rare autosomal recessive disorder caused by a defect in the chloride/ bicarbonate exchange in the ileum and colon. It is characterized by watery diarrhea, abdominal distension, hypochloremic hypokalemic metabolic alkalosis with high fecal content of chloride (>90 mmol/l). We report 3 patients with CLD associated with various renal abnormalities including chronic renal failure secondary to renal hypoplasia, nephrocalcinosis and congenital nephrotic syndrome.

• Authors: Nadia M Al-Hamad, Amal A Al-Eisa
• Journal: Saudi medical journal (Saudi Med J) Vol. 25 Issue 5 Pg. 651-5 (May 2004) ISSN: 0379-5284 [Print] Saudi Arabia
• PMID: 15138536 (Publication Type: Case Reports, Journal Article)

Chemical References

• Chloride-Bicarbonate Antiporters
• Chlorides

Topics

• Adolescent
• Child
• Child, Preschool
• Chloride-Bicarbonate Antiporters (genetics)
• Chlorides (metabolism)
• Chromosome Aberrations
• Colonic Diseases (genetics)
• Diarrhea (genetics)
• Fatal Outcome
• Follow-Up Studies
• Genes, Recessive
• Humans
• Hypokalemia (genetics)
• Ileal Diseases (genetics)
• Infant
• Kidney (abnormalities)
• Kidney Failure, Chronic (genetics)
• Male