Arkana Advances is a research podcast, hosted by Dr. Rebecca May, discussing the work of Arkana physicians and scientists as they ask questions that lead to advancing the understanding of disease.
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Arkana Advances is a research podcast, hosted by Dr. Rebecca May, discussing the work of Arkana physicians and scientists as they ask questions that lead to advancing the understanding of disease.
Infantile Nephrocalcinosis Resulting From a Pathogenic CYP24A1 Mutation
Arkana Advances
10 minutes 10 seconds
3 years ago
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
[embed]https://youtu.be/lxQrEIbbb0E[/embed]
Arkana Advances
Arkana Advances is a research podcast, hosted by Dr. Rebecca May, discussing the work of Arkana physicians and scientists as they ask questions that lead to advancing the understanding of disease.
