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Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.
- Source :
-
American journal of kidney diseases : the official journal of the National Kidney Foundation [Am J Kidney Dis] 2015 Jan; Vol. 65 (1), pp. 122-6. Date of Electronic Publication: 2014 Nov 04. - Publication Year :
- 2015
-
Abstract
- Loss-of-function mutations of CYP24A1, the enzyme that converts the major circulating and active forms of vitamin D to inactive metabolites, recently have been implicated in idiopathic infantile hypercalcemia. Patients with biallelic mutations in CYP24A1 present with severe hypercalcemia and nephrocalcinosis in infancy or hypercalciuria, kidney stones, and nephrocalcinosis in adulthood. We describe a cohort of 7 patients (2 adults, 5 children) presenting with severe hypercalcemia who had homozygous or compound heterozygous mutations in CYP24A1. Acute episodes of hypercalcemia in infancy were the first symptom in 6 of 7 patients; in all patients, symptoms included nephrocalcinosis, hypercalciuria, low parathyroid hormone (PTH) levels, and higher than expected 1,25-dihydroxyvitamin D levels. Longitudinal data suggested that in most patients, periods of increased sunlight exposure tended to correlate with decreases in PTH levels and increases in calcemia and calciuria. Follow-up of the 2 adult patients showed reduced glomerular filtration rate and extrarenal manifestations, including calcic corneal deposits and osteoporosis. Cases of severe PTH-independent hypercalcemia associated with hypercalciuria in infants should prompt genetic analysis of CYP24A1. These patients should be monitored carefully throughout life because they may be at increased risk for developing chronic kidney disease.<br /> (Copyright © 2014 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Bone Density Conservation Agents pharmacology
Calcium metabolism
Child
Child, Preschool
Female
Humans
Hypercalciuria genetics
Hypercalciuria physiopathology
Infant
Kidney Function Tests methods
Male
Middle Aged
Monitoring, Physiologic methods
Mutation
Parathyroid Hormone blood
Renal Insufficiency, Chronic etiology
Renal Insufficiency, Chronic prevention & control
Seasons
Treatment Outcome
Vitamin D metabolism
Vitamin D pharmacology
Vitamin D3 24-Hydroxylase metabolism
Diphosphonates pharmacology
Fluid Therapy methods
Hypercalcemia genetics
Hypercalcemia physiopathology
Nephrocalcinosis etiology
Nephrocalcinosis metabolism
Nephrocalcinosis physiopathology
Nephrolithiasis etiology
Nephrolithiasis metabolism
Nephrolithiasis physiopathology
Sunlight adverse effects
Vitamin D analogs & derivatives
Vitamin D3 24-Hydroxylase genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1523-6838
- Volume :
- 65
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- American journal of kidney diseases : the official journal of the National Kidney Foundation
- Publication Type :
- Academic Journal
- Accession number :
- 25446019
- Full Text :
- https://doi.org/10.1053/j.ajkd.2014.06.037