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Congenital chloride diarrhea: a review of twelve Arabian children

Authors Elrefae F, Elhassanien AF , Alghiaty HA

Received 22 November 2012

Accepted for publication 1 January 2013

Published 5 June 2013 Volume 2013:6 Pages 71—75


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Fawaz Elrefae,1 Ahmed Farag Elhassanien,2 Hesham Abdel-Aziz Alghiaty3

1Pediatric Gastroenterology, Al-Adan Hospital, Kuwait; 2Faculty of Medicine, Elmansoura University, El Mansoura, El Dakahleya, Egypt; 3Faculty of Medicine, Benha University, Egypt

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.

Keywords: congenital chloride diarrhea, children, chronic diarrhea, metabolic alkalosis, prenatal diagnosis

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