Background Congenital chloride diarrhea(CCD), A rare deadly autosomal recessive disorder of chronic diarrhea in infancy.

Methods Patients diagnosed with CCD between1986–2009 were studied. The demographic data, clinical findings and biochemical findings were collected and statistically analyzed.

Results Forty-three patients (28M/15F) had CCD. Fifteen patients (35%) were diagnosed after one year of age (late referral or misdiagnosis as Bartter syndrome). Premature delivery in 24 cases (55.8%). Polyhydramnios in 26 pregnancies. All patients were distributed among 19 families with 33 children being the outcome of consanguineous marriages. Intractable diarrhea was the presenting symptom in 40patients (93%), Biochemical data revealed: Serum potassium (1.3–4.1, mean 2.4Mmol/l), s. chloride (39–95, mean76.2Mmol/l), s.bicarbonate (22–54) meam-37.6 Mmol/). Fecal chloride (134±21.6, mean±SD)(range 90–205). The fecal chloride over fecal sodium plus potassium ratio was 0.6 (1.1±0.3, mean ± SD)(N.=0.2). Associated disorders were: chronic renal failure 7 (16%), congenital anomalies 8 (19%), mental retardation4 (9.3%) seizures 8 (19%), and brain atrophy 4 (9%). Complications were seen mostly among patients with late referral or poor compliance. At diagnosis, 35 (81.4%) cases were below –2SD for weight for-age, 31 (72%) for weight-for-height, and 31 (72%) for height-for-age. Children under five years of age showed improvement in weight for height as compared with older children.

Conclusions CCD is a treatable cause of intractable diarrhea in infancy.

Awareness, early diagnosis and proper management are essential in preventing irreversible and long-term organ damage and a better outcome compared to those with late referrals.

CCD is to be considered in infants with severe persistent diarrhea where a high rate of consanguineous marriage prevails.