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Congenital chloride diarrhoea in Kuwaiti children
M M Lubani1, K I Doudin, D C Sharda
1Department of Paediatrics, Farwania Hospital, Kuwait.
Insights
Congenital chloride diarrhoea, a rare genetic disorder, affects Kuwaiti infants with chronic diarrhoea and electrolyte imbalances. Early diagnosis and treatment are crucial for survival and catch-up growth.
Area of Science:
- Pediatrics
- Gastroenterology
- Genetics
Background:
- Congenital chloride diarrhoea (CCD) is a rare inherited disorder.
- It presents in infancy with severe chronic diarrhoea and electrolyte disturbances.
Purpose of the Study:
- To report the incidence and clinical characteristics of CCD in Kuwaiti children.
- To highlight diagnostic criteria and treatment outcomes.
Main Methods:
- Retrospective review of 16 diagnosed cases over a 7-year period (1980-1986).
- Analysis of clinical presentation, serum electrolytes, and stool chloride levels.
- Evaluation of treatment response and outcomes.
Main Results:
- Estimated incidence of 7.6 per 100,000 live births.
- Common symptoms included shortened gestational period, abdominal distension, chronic diarrhoea, hyponatraemia, hypokalaemia, hypochloraemia, and metabolic alkalosis.
- Diagnosis confirmed by elevated stool chloride levels.
- Fifteen of sixteen patients survived with catch-up growth after treatment; one died from renal failure.
Conclusions:
- Congenital chloride diarrhoea has a significant incidence in Kuwait.
- Prompt diagnosis and appropriate electrolyte replacement therapy are vital for patient survival and development.
Abstract:
Congenital chloride diarrhoea was diagnosed in 16 Kuwaiti children over a 7 year period (1980-1986) with an estimated incidence of 7.6 per 100,000 live births. The mean age at diagnosis was 3.2 months (range 1 week to 5 months). There were 9 boys and 7 girls with a mean age of 3 years 10 months (range 10 months to 7 years). All children had a shortened gestational period, abdominal distension and chronic diarrhoea. The serum electrolytes in all patients prior to treatment showed hyponatraemia, hypokalaemia, hypochloraemia and metabolic alkalosis. The diagnosis was confirmed by a stool chloride content that exceeded the sum of faecal sodium and potassium. Fifteen patients survived and showed catch-up growth with adequate replacement therapy and 1 died with renal failure.