CCLD in newborn infants is a medical emergency, requiring early diagnosis and prompt treatment for preventing severe dehydration and mortality. CCLD is a rare autosomal recessive disorder caused by mutations in the CCLD gene called the solute carrier family 26 member 3 gene (SLC26A3 alias DRA), mapped to chromosome 7q31. CCLD Incidence in Israel is not known, whereas it is 1:3200 and 1:5000 in Kuwait and Saudi Arabia, respectively, with their high prevalence of consanguineous marriages.
Case report: A 1750-g, 31-weeks` gestation, female baby was born by a spontaneous delivery to a 26-year-old, healthy, gravida 2 para 1 mother. Pregnancy was complicated by severe polyhydramnios (AFI = 64) and fetal intestinal distention. Parents were consanguineous (first-degree) and reported that two additional CCLD cases were detected in their family.
After birth severe abdominal distension, profuse watery diarrhea and excessive weight loss (12.5%) were detected.
Laboratory: high fecal chloride level >90 mmol/l, hyponatremia, metabolic alkalosis, and hypokalemia.
Treatment: .I.V. fluids with NaCl and KCl, with gradual switch to oral salt therapy with enteral feeding.
Long term complications: CCLD diarrhea is life-long and is associated with colitis, Crohn’s disease,chronic hypovolemia, secondary hyperaldosteronism, hypertension, male subfertility and hyperuricaemia .
Conclusions: Early diagnosis and sufficient salt substitution therapy with NaCl and KCl offer a favorable long-term outcome in CCLD. CCLD rarity makes any large clinical trials impossible and thus, most of treatment recommendations are based on clinical experience in treatment and follow-up of the largest known series of CCLD.
