Back to Blog

Infantile Nephrocalcinosis Resulting From a Pathogenic CYP24A1 Mutation

By Dr. Rebecca May

Dec 18, 2021

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.
 
 

Tags:

Quick note: This post is to be used for informational purposes only and does not constitute medical or health advice. Each person should consult their own doctor with respect to matters referenced. Arkana Laboratories assumes no liability for actions taken in reliance upon the information contained herein.