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Congenital chloride diarrhea. A study in Arab children
1Department of Pediatrics, King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia.
Insights
Congenital chloride diarrhea (CCD) is a common Saudi childhood metabolic disorder. Early electrolyte treatment in children with CCD promotes catch-up growth, but non-compliance can lead to developmental issues.
Area of Science:
- Pediatrics
- Medical Genetics
- Metabolic Disorders
Background:
- Congenital chloride diarrhea (CCD) is a rare genetic disorder affecting intestinal ion transport.
- It is a significant cause of metabolic disturbances in Saudi children, with a notable incidence rate.
- Early diagnosis and management are crucial for preventing long-term complications.
Purpose of the Study:
- To describe the clinical, biochemical, and treatment outcomes of 10 children diagnosed with CCD in Saudi Arabia.
- To highlight the characteristic perinatal features and metabolic profiles in affected neonates and infants.
- To evaluate the efficacy of continuous oral electrolyte therapy on growth and development.
Main Methods:
- A retrospective analysis of clinical data from 10 children with CCD over 7.5 years.
- Review of perinatal characteristics, biochemical parameters (including fecal electrolytes), and treatment regimens.
- Assessment of growth, development, and renal function post-treatment.
Main Results:
- All patients presented with maternal polyhydramnios, prematurity, abdominal distention, and diarrhea; 90% had hyperbilirubinemia.
- 50% exhibited hypokalemic hypochloremic metabolic alkalosis, while neonates presented with acidosis. Fecal chloride levels were consistently elevated.
- Continuous oral electrolyte solution led to catch-up physical growth in 8 out of 9 treated patients. Non-compliance was associated with adverse outcomes.
Conclusions:
- Congenital chloride diarrhea requires prompt diagnosis and consistent electrolyte management for optimal outcomes in Saudi children.
- Effective treatment can facilitate catch-up growth, but adherence is critical to prevent developmental and renal complications.
- This study underscores the importance of early intervention in managing this metabolic disorder.
Abstract:
Congenital chloride diarrhea (CCD) is a common metabolic disorder in Saudi children with an incidence of 1 in 5,500. The present retrospective study from Saudi Arabia, over 7.5 years, presents the clinical, biochemical, and treatment details in 10 children with CCD. The perinatal characteristics of maternal polyhydramnios, prematurity, abdominal distention, and diarrhea were seen in 100% and hyperbilirubinemia in 90% of patients. Hypokalemic hypochloremic metabolic alkalosis was a feature in 50% of the children and acidosis in both neonates. Fecal chloride greater than 100 mmol/L in 100% and fecal chloride greater than the sum of fecal sodium and potassium were found in 55% of patients. The mean age at the time of diagnosis was 10 months and the mean duration of follow-up for the group was 38 months (range 2-89 months). Eight of the nine patients treated with continuous oral electrolyte solution demonstrated "catch-up" physical growth. Mental subnormality, growth retardation, and renal impairment were seen in one patient who failed to comply with the treatment. Cerebral palsy in another child was due to neonatal intraventricular hemorrhage.