The authors report a case of congenital chloride diarrhea with molecular confirmation of diagnosis. A 10-mo-old boy presented with failure to thrive, voluminous diarrhea, dehydration, hyponatremia, hypokalemia, metabolic alkalosis and history of maternal polyhydramnios. The diagnosis of congenital chloride diarrhea was based on high fecal and low urinary chloride excretion, in addition to biochemical abnormalities. Genetic testing revealed a novel homozygous mutation in exon 4 of the SLC26A3 gene that encodes the protein regulating chloride bicarbonate absorption in distal ileum and colon. Therapy with oral fluids and electrolytes led to decrease in stool frequency and improvement in growth parameters.
Background: Acute diarrheal diseases remain a leading cause of global morbidity and mortality in young children. The effective implementation of provision of zinc in addition to low osmolarity ORS remains very poor.Methods: A prospective observational study was done to determine compliance with zinc therapy on 103 children aged between two months to five years with acute gastroenteritis. They were started on WHO ORS and zinc in the form of syrup (20 mg/day in those >6 months of age and 10mg/day in those <6 months of age) and advised to continue for 14 days. Further episodes of diarrhea was considered as the primary outcome variable. Number of days zinc taken was considered as the primary explanatory variable. p-value <0.05 was considered statistically significant.Results: The mean age was 19.49±14.41 months. The compliance to complete 14-day zinc therapy was 62.14%. The mean number of days zinc was taken was 11.28±3.81 days. In 11.65% of participants, there was further episodes of diarrhea. The main reasons for discontinuation were diarrhea stopped (45%), Ignorance (37.5%), URI (12.5%).Conclusions: Findings indicate that the syrup formulation is acceptable, but further efforts are required to enhance adherence. These findings also highlight the importance of guiding in ensuring adherence to zinc duration while also addressing the tendency of caregivers to terminate treatment once a child appears to have recovered from an acute diarrheal episode.
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