Abstract
Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male patient with recurrent nephrolithiasis, nephrocalcinosis, hypercalcemia with low parathyroid hormone levels, hypercalciuria and low bone mass. Gene sequencing showed that the patient had compound heterozygous mutations including a novel genotype of the CYP24A1 gene. Genetic CYP24A1 testing and biochemical analyses were offered to other family members; the father was heterozygous for the same novel genotype and was also affected with recurrent nephrolithiasis.
Keywords:
Genetics; Hypercalciuria; Osteoporosis; Urolithiasis; Vitamin D.
MeSH terms
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Adult
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Calcium Phosphates / chemistry
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Genotype
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Humans
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Hypercalcemia / blood
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Hypercalcemia / genetics*
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Hypercalcemia / urine
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Hypercalciuria / blood
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Hypercalciuria / genetics*
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Hypercalciuria / urine
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Kidney / metabolism
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Kidney Calculi / chemistry
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Male
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Mutation
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Nephrocalcinosis / blood
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Nephrocalcinosis / diagnostic imaging
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Nephrocalcinosis / genetics*
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Nephrocalcinosis / urine
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Nephrolithiasis / blood
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Nephrolithiasis / diagnostic imaging
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Nephrolithiasis / genetics*
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Nephrolithiasis / urine
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Osteoporosis / blood
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Osteoporosis / genetics*
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Osteoporosis / urine
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Parathyroid Hormone / blood
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Pedigree
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Recurrence
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Renal Elimination
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Sequence Analysis, DNA
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Tomography, X-Ray Computed
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Vitamin D3 24-Hydroxylase / genetics*
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Young Adult
Substances
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Calcium Phosphates
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Parathyroid Hormone
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CYP24A1 protein, human
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Vitamin D3 24-Hydroxylase
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calcium phosphate, dibasic, dihydrate