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Congenital chloride diarrhoea in Kuwait: a clinical reappraisal

M H Badawi1, M Zaki, E A Ismail

  • 1Department of Paediatrics, Al-Adan Hospital, Hadeia Kuwait.

Journal of Tropical Pediatrics
|November 20, 1998
PubMed

Insights

Congenital chloride diarrhoea (CCD) is a rare genetic disorder affecting infant digestion. Early detection through prenatal ultrasound and fecal chloride testing is crucial for managing this condition.

Area of Science:

  • Pediatrics
  • Gastroenterology
  • Medical Genetics

Background:

  • Congenital chloride diarrhoea (CCD) is a rare, recessively inherited disorder impacting chloride transport in the intestines.
  • It presents a significant metabolic challenge, particularly noted in populations like Kuwait with an incidence of 1/3200.

Purpose of the Study:

  • To report clinical findings in 14 children diagnosed with CCD over four years.
  • To highlight diagnostic features and emphasize the importance of early identification strategies.

Main Methods:

  • Clinical case reporting and analysis of 14 pediatric patients with CCD.
  • Review of diagnostic criteria including maternal polyhydramnios, neonatal symptoms, fecal chloride levels, and antenatal ultrasound findings.

Main Results:

  • Cardinal neonatal features included maternal polyhydramnios, abdominal distension, watery diarrhoea, and high fecal chloride (>90 mmol/l).
  • 75% of cases were diagnosed post-neonatally, presenting with chronic diarrhoea, failure to thrive, hypochloraemia, hypokalaemia, and metabolic alkalosis.
  • Antenatal ultrasound revealing dilated intestinal loops, coupled with high fecal chloride levels, confirmed diagnosis.

Conclusions:

  • Early identification of CCD is possible through antenatal ultrasound in high-risk pregnancies (e.g., polyhydramnios, previous affected siblings).
  • High fecal chloride levels remain a definitive diagnostic marker for congenital chloride diarrhoea.

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