Infantile Nephrocalcinosis Resulting From a Pathogenic CYP24A1 Mutation
Nephrocalcinosis is the finding of abundant calcium phosphate deposits within the tubulointerstitium of the kidney. This is a case report of a renal biopsy from an 11 month old male with hypercalcemia and developmental delay, who was found to have nephrocalcinosis. It is a rare diagnosis in infants, and should prompt a genetic workup. Genetic workup revealed a CYP24A1 mutation, which results in a truncated protein. This is a novel mutation in this gene. CYP24A1 is involved in Vitamin D metabolism. It is important to publish these mutations so geneticists can create databases of pathogenic mutations, and to provide prognostic information to patients.
Read the Paper: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551537/pdf/main.pdf
Watch the episode: https://www.youtube.com/watch?v=lxQrEIbbb0E
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