Hypocitraturia Contributing to Nephrolithiasis in a Patient with CYP24A1 Gene Mutation

Hypocitraturia Contributing to Nephrolithiasis in a Patient with CYP24A1 Gene Mutation

ABSTRACT: Objective: There have been several case reports of hypercalcemia due to mutation in CYP24A1, which encodes an enzyme that controls the catabolism of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D to inactive forms. These patients develop nephrolithiasis, nephrocalcinosis, and eventually...

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Main Authors: Mohamed K.M. Shakir, MD, Ibrahim al-Jabbar, MHS, Thanh D. Hoang, DO, Terry Shin, MD, Vinh Q. Mai, DO
Format: Article
Language:English
Published: Elsevier 2018-07-01
Series:AACE Clinical Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060520301097

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http://www.sciencedirect.com/science/article/pii/S2376060520301097

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