Fetal diarrhoea

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Congenital chloride diarrhea (CCD) is a rare, genetically inherited disorder characterized by chronic, life-threatening watery diarrhea due to excessive chloride loss in stools. It follows an autosomal recessive inheritance pattern, meaning both parents must be carriers of the defective gene for the condition to manifest in their child. While CCD is found worldwide, it has a higher prevalence in Finland and the Middle East. The condition was first described in 1945 by Gamble et al. and Darrow. More recent genetic studies have precisely located the responsible gene, SLC26A3, on chromosome 7.

Meconium stained amniotic fluid
Prenatal Indicators and Diagnosis

Most affected infants are born preterm. Antenatal ultrasound findings typically include polyhydramnios and significant dilation of fetal intestinal loops, indicating abnormal fetal gastrointestinal function.

Postnatally, CCD presents with severe abdominal distension, profuse watery diarrhea, and failure to thrive. Some infants may remain undiagnosed for months, but an intercurrent infection, especially gastroenteritis, can disrupt the delicate water and electrolyte balance, leading to life-threatening complications.
Dilated small bowel
Fetal small bowel showing inflammation
Clinical Features and Laboratory Findings

Patients with CCD typically exhibit:
  • Severe dehydration due to excessive fluid loss
  • Hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis
  • High fecal chloride concentration (>100 mmol/L)—exceeding the combined levels of fecal sodium and potassium
  • Chloride-free urine, distinguishing CCD from other diarrheal disorders



Management and Prognosis 
Since CCD results from a permanent intestinal transport defect, it requires lifelong supplementation with sodium and potassium chloride solutions to maintain electrolyte balance and hydration. Early diagnosis and consistent treatment enable affected individuals to achieve normal growth and cognitive development. Advances in neonatal screening and improved electrolyte management have significantly enhanced the long-term prognosis of CCD patients.

Congenital chloride diarrhea, though rare, is a critical condition requiring early detection and sustained medical intervention. Increased awareness among healthcare professionals and genetic counseling for at-risk populations can improve outcomes and quality of life for affected individuals.

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