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Captopril in congenital chloride diarrhoea: a case study
Shoeb Bin Islam1, Ramendra Nath Mazumder1, Mohammod Jobayer Chisti1
1icddr,b, GPO Box 128, Dhaka 1000, Bangladesh.
Insights
Congenital chloride diarrhoea (CCD) is a rare genetic disorder. This case report highlights Captopril
Area of Science:
- Pediatric Gastroenterology
- Medical Genetics
- Clinical Pharmacology
Background:
- Congenital chloride diarrhoea (CCD) is a rare autosomal recessive disorder characterized by severe secretory diarrhoea and electrolyte imbalance from birth.
- Standard management involves electrolyte and fluid replacement, but treatment options for persistent symptoms are limited.
Observation:
- An infant girl presented with persistent watery diarrhoea, failure to thrive, and developmental delay since birth.
- Diagnostic workup confirmed congenital chloride diarrhoea (CCD) with markedly elevated fecal chloride levels, excluding cystic fibrosis.
Findings:
- The patient's severe diarrhoea resolved after administration of Captopril, an angiotensin-converting enzyme inhibitor initially prescribed for heart failure.
- This represents the first documented instance of Captopril effectively managing diarrhoea in a patient with congenital chloride diarrhoea (CCD).
Implications:
- Captopril may represent a novel therapeutic option for managing refractory diarrhoea in congenital chloride diarrhoea (CCD).
- Further clinical studies are warranted to investigate the efficacy and safety of Captopril as an adjunct treatment for CCD.
- This finding could offer new hope for patients with limited treatment alternatives for this rare genetic condition.
Abstract:
An 11 months 22 days old girl presented with a history of watery diarrhoea since birth, failure to thrive, and developmental delay. Her diagnosis was congenital chloride diarrhoea (CCD) with raised level of chloride (>90 mmol/L) in stool in the absence of cystic fibrosis. Management of CCD included replacement of NaCl, KCl, and correction of dehydration. Diarrhoea of the patient was resolved with Captopril, which was initially provided to the patient for managing heart failure. To our knowledge, this is the first reported case of CCD that shows the beneficial effect of Captopril. Therefore, we suggest that further study is warranted as to the potential for Captopril as additional option in the treatment for CCD. We present this case report with the informed consent of the patient's guardian.
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