Related Experiment Videos
Congenital chloridorrhea in Korean infants
1Department of Pediatrics, College of Medicine, Seoul National University, Korea.
Insights
This study reports the first cases of congenital chloridorrhea in Korean infants, a rare metabolic disorder causing severe diarrhea. Early diagnosis and electrolyte replacement led to successful management.
Area of Science:
- Pediatrics
- Inborn Errors of Metabolism
- Gastroenterology
Background:
- Congenital chloridorrhea (Darrow-Gamble syndrome) is an extremely rare inborn error of metabolism.
- Characterized by chronic, profuse watery diarrhea and electrolyte imbalances from birth.
Purpose of the Study:
- To describe the diagnosis and management of two Korean male infants with congenital chloridorrhea.
- To highlight the clinical presentation and diagnostic challenges of this rare condition.
Main Methods:
- Clinical observation of two infants presenting with severe gastrointestinal symptoms.
- Diagnosis confirmed by elevated stool chloride concentration.
- Analysis of serum electrolytes and arterial blood gases.
Main Results:
- Both patients exhibited metabolic alkalosis, hyponatremia, hypokalemia, and hypochloremia.
- Stool chloride concentrations were significantly elevated.
- Fluid and electrolyte replacement with potassium and chloride supplements resulted in clinical improvement.
Conclusions:
- Congenital chloridorrhea can be diagnosed based on clinical suspicion and confirmed by stool electrolyte analysis.
- Prompt management with electrolyte replacement is crucial for patient well-being.
- This represents the first reported cases of congenital chloridorrhea in the Korean population.
Abstract:
The present paper describes two Korean male infants, 1. 16 year old and newly born neonate from two families who were diagnosed and managed for one of very rare inborn errors of metabolism, congenital chloridorrhea (Darrow-Gamble syndrome). The diagnosis was suggested by one of the authors (HRM) from the unusual combination of metabolic alkalosis with severe gastrointestinal disorder presenting with chronic, profuse watery diarrhea in the newborn period in the first patient; and the maternal polyhydramnios, the appearance of dilated fetal bowel loops on prenatal ultrasonography and profuse watery diarrhea beginning at birth without passage of meconium in the second patient. The diagnosis was confirmed in both patients by examination of the stool chloride concentration which revealed extremely high exceeding the sum of sodium and potassium concentrations. Serum electrolytes and arterial blood gas analyses revealed hyponatremia, hypokalemia and hypochloremia with elevated bicarbonate. With replacement of fluid and electrolyte deficit and adequate dietary supplements of potassium and chloride, both patients remained well although the character of the stools waxed and waned. This is the first reported case of congenital chloridorrhea in korean population.