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Case Reports
. 2025 Apr;40(4):951-953.
doi: 10.1007/s00467-024-06614-z. Epub 2024 Dec 2.

Infantile nephrocalcinosis with chronic diarrhea

Rehna K Rahman  1 , Vinitha Vijaya Raghavan  2 , Divya Pachat  2
Affiliations
Case Reports

Infantile nephrocalcinosis with chronic diarrhea

Rehna K Rahman et al. Pediatr Nephrol. 2025 Apr.

Abstract

A 3-month-old girl presented with symptoms indicative of dysuria, gross hematuria, chronic diarrhea, and nephrocalcinosis. She was born to fourth-degree consanguineous parents. The infant exhibited hypercalciuria and hyperoxaluria, and her stool tested positive for reducing sugars. She responded positively to dietary lactose restriction, and her hyperoxaluria improved over the course of 3 months. This suggests an enteric hyperoxaluria phenotype, although her hypercalciuria persisted. Whole exome sequencing identified a homozygous variant in the LCT gene, which is associated with congenital lactase deficiency, as well as a heterozygous variant in the ADCY10 gene, which is linked to absorptive hypercalciuria.

Keywords: Chronic diarrhea; Hypercalciuria; Hyperoxaluria; Nephrocalcinosis.

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Conflict of interest statement

Declarations. Competing interests: The authors declare no competing interests.

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