Celiac Disease in a Girl With Congenital Chloride Diarrhea: Coincidence of 2 Diarrheal Disorders

Abstract

Congenital chloride diarrhea (CLD) is a rare, autosomal recessive disorder caused by mutations in the solute-linked carrier family 26 member 3 gene (SLC26A3) located in chromosome 7q31. The encoded protein belongs to the ion transporter family and is responsible for sodium-independent Cl À /HCO 3 À ion exchange. In this process, the exchanger protein located in the apical brush border of the intestinal epithelium in the ileum and large bowel subserves the absorption of chloride by epithelial cells and secretion of bicarbonate into the lumen of the bowel (1). Mutation disrupts this process and leads to secretory diarrhea with a high chloride content in the stool, hypochloremia, hyponatremia, and metabolic alkalosis. The first symptoms appear prenatally as polyhydramnios. Ultrasonography shows dilated intestinal loops. Premature birth is common (2). Without adequate treatment (replacement therapy with NaCl and KCl), severe electrolyte disturbances develop with episodes of dehydration. Chronic hypovolemia, followed by high aldosterone and elevated plasma renin activity, may lead to renal function impairment (2-4). Failure to thrive may occur (2).Celiac disease (CD) is characterized by immunemediated gluten intolerance resulting in enteropathy with atrophy of small bowel mucosa and impairment of food absorption. CD has a genetic background and is strongly associated with HLA DQ2, or DQ8. The prevalence of CD in Europe is estimated as 1 in 100 to 500. The most typical symptoms of its classical form in small children are chronic diarrhea and failure to thrive (5).

Congenital cataract and congenital chloride diarrhoea--a unique combination and antenatal diagnosis

“…Renal abnormalities, including chronic renal failure secondary to renal hypoplasia, nephrocalcinosis and congenital nephrotic syndrome have been reported in association with CCD 7. There are case reports of two diahhoeal diseases like celiac disease and CCD in the same patient 8. Diagnosis of CCD must be considered if there is family history of polyhydramnios, premature birth, watery diarrhoea from birth, failure to pass meconium, distended abdomen without vomiting, hypochloremic metabolic alkalosis, hyponatremia, hyperbilirubinaemia and stool chloride greater than stool sodium plus potassium 7.…”

“…Management is replacement of chloride: optimal dose varying between 6–8 mmol/kg/day in neonates as sodium chloride and potassium chloride in the ratio of 2:1. Smaller doses of 4 mmol/kg/day are sufficient in older patients 8. Other medical treatments like cholestyramine10 and omperazole11 have been tried but with little success.…”