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Congenital chloride diarrhea: a review of twelve Arabian children
Fawaz Elrefae1, Ahmed Farag Elhassanien, Hesham Abdel-Aziz Alghiaty
1Pediatric Gastroenterology, Al-Adan Hospital, Kuwait.
Insights
Congenital chloride diarrhea (CCD) is a rare genetic disorder causing chronic diarrhea. Early diagnosis in infants with consanguineous parents and specific ultrasound findings is crucial for management.
Area of Science:
- Genetics
- Pediatrics
- Gastroenterology
Background:
- Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder.
- Characterized by sustained watery diarrhea due to defective ileal and colonic chloride/bicarbonate exchange.
- Presents with high fecal chloride levels.
Purpose of the Study:
- To highlight the typical presentation of CCD for timely diagnosis.
- To emphasize early management strategies.
- To prevent associated complications.
Main Methods:
- Retrospective case series study.
- Patients diagnosed with CCD followed at Al-Adan Hospital, Kuwait.
- Analysis of clinical and antenatal data.
Main Results:
- Twelve patients from consanguineous marriages diagnosed with CCD.
- Common antenatal findings included IUGR, polyhydramnios, and distended fetal bowel.
- Infants presented with abdominal distension, hypotonia, muscle wasting, and electrolyte imbalances (decreased serum sodium, potassium, chloride).
- Absence of normal meconium at birth and maternal hypertension were also noted.
Conclusions:
- High index of suspicion for CCD in infants with chronic diarrhea is recommended.
- Consanguineous marriage and characteristic antenatal ultrasound findings are key indicators.
- Early diagnosis facilitates prompt investigation and appropriate management.
Background:
Congenital chloride diarrhea (CCD), a rare autosomal recessive disorder, is characterized by sustained watery diarrhea (due to defect of active Chloride/HCO3 exchange in the ileum and colon) with high fecal chloride.
Objective:
To spotlight the common presentation of CCD for early management and prevention of complications.
Subjects And Methods:
This is a retrospective case series study of patients diagnosed as CCD who were followed up in the pediatric department of Al-Adan Hospital, Kuwait.
Results:
Twelve patients diagnosed with CCD were born to consanguineous parents; had antenatal history of intrauterine growth retardation (IUGR); polyhydramnios; and distended hypoechoic fetal bowel; and presented with abdominal distension, hypotonia and muscle wasting. 90% of patients had maternal hypertension and 75% of patients had absence of normal meconium at birth. Our patients showed a decrease in serum sodium, potassium, chloride and urine chloride.
Conclusion:
A high level of suspicion for an early diagnosis of CCD should be considered for any infant presenting with chronic diarrhea, especially in the presence of consanguineous marriage, and the characteristic features in antenatal ultrasound. Thus, allowing for early investigations and appropriate management.
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