Renal abnormalities in congenital chloride diarrhea.
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.
Al-Hamad
Nadia M
NM
Department of Pediatrics, Mubarak Al-Kabeer Hospital, State of Kuwait.
Al-Eisa
Amal A
AA
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D027963:Chloride-Bicarbonate Antiporters / Q000235:genetics; D002712:Chlorides / Q000378:metabolism; D002869:Chromosome Aberrations; D003108:Colonic Diseases / Q000235:genetics*; D003967:Diarrhea / Q000235:genetics*; D017809:Fatal Outcome; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007008:Hypokalemia / Q000235:genetics; D007077:Ileal Diseases / Q000235:genetics*; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D007676:Kidney Failure, Chronic / Q000235:genetics; D008297:Male
D027963:Chloride-Bicarbonate Antiporters; D002712:Chlorides