Delayed Diagnosis in a Male With Congenital Chloride Losing Diarrhea

JPGN reports · 3 authors, 1 centre

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TL;DR

This case report describes a 12-month-old boy with congenital chloride diarrhea (CLD) whose symptoms resolved with an elemental formula, leading to a delayed diagnosis until 12 months of age when severe electrolyte abnormalities returned. Genetic testing identified a novel combination of a large deletion and a pathogenic sequence variant in the SLC26A3 gene.

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This is a case report of a male infant with congenital chloride diarrhea (CLD) who presented prenatally with polyhydramnios and postnatally with abdominal distention and vomiting, which initially resolved on an elemental formula. Treatment involved oral sodium and potassium supplementation, leading to stable electrolytes and appropriate weight gain. Genetic testing revealed a novel 4.3-kb deletion and a sequence variant (c.610T>G; pTyr204Asp) in the SLC26A3 gene, confirmed as pathogenic via parental testing. Limitations include this being a single case with a novel genetic profile and the exact reason for the delayed symptom onset remains unclear.

STUDY TYPE

case_report

SPECIALTY

pediatrics

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AI pipeline

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100% · A

ORIGINAL PAPER

PMC10158335

Delayed Diagnosis in a Male With Congenital Chloride Losing Diarrhea

JPGN reports

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ABSTRACT

Congenital chloride diarrhea is a secretory type of diarrhea, inherited in as autosomal recessive. Our case involves a 12-month-old male who initially presented in infancy and was treated with an exclusive elemental formula diet. At 12 months of age, he presented with significant hypokalemia, hypochloremia, and metabolic alkalosis. The diagnosis was established with stool electrolytes demonstrating a stool chloride of 145 mmol/L. He initially was treated with sodium and potassium supplementation and a proton pump inhibitor. Genetic testing revealed a large 4.3-kb deletion encompassing exons 15 to 17 of the SLC26A3 gene and a sequence variant of the SLC26A3 gene, c.610T>G; pTyr204Asp initially reported as a variant of unknown significance. His parents had genetic testing confirming that the deletion and sequence variant were found in opposite alleles in the patient, meaning the sequence variant is a pathogenic variant. He is maintaining stable serum electrolytes and gaining appropriate weight on oral electrolyte supplementation.

CITATION EXPORT

Raul E. Sanchez, Steven H. Erdman, Ivor D. Hill. Delayed Diagnosis in a Male With Congenital Chloride Losing Diarrhea. JPGN reports. (2022). https://doi.org/10.1097/PG9.0000000000000166

AUTHORS

3 · 1 CENTRES

Raul E. Sanchez, Steven H. Erdman, Ivor D. Hill

From the Department of Gastroenterology, Nationwide Children’s Hospital, Columbus, OH