An Infant with Idiopathic Hypercalciuria and Nephrolithiasis Associated with CYP24A1 Enzyme Polymorphism: a Case Report
CYP24A1 is an enzyme that inactivates vitamin D and encodes vitamin D 24-hydroxylase. Mutations in this enzyme have been linked with idiopathic infantile hypercalcemia, nephrolithiasis, and nephrocalcinosis. Genetic testing for this mutation should be considered in the presence of calciuria, elev...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Sestre Milosrdnice University hospital, Institute of Clinical Medical Research
2021-01-01
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| Series: | Acta Clinica Croatica |
| Subjects: | |
| Online Access: | https://hrcak.srce.hr/file/393820 |
| _version_ | 1797206802432000000 |
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| author | Ivana Trutin Iva Škorić |
| author_facet | Ivana Trutin Iva Škorić |
| author_sort | Ivana Trutin |
| collection | DOAJ |
| description | CYP24A1 is an enzyme that inactivates vitamin D and encodes vitamin D 24-hydroxylase.
Mutations in this enzyme have been linked with idiopathic infantile hypercalcemia, nephrolithiasis,
and nephrocalcinosis. Genetic testing for this mutation should be considered in the presence
of calciuria, elevated serum calcium, elevated 1,25- dihydroxyvitamin D, and suppressed parathyroid
hormone. We present a previously healthy eight-month-old male infant with macrohematuria,
hypercalciuria (6 mg/kg/24 h), albuminuria (54 mg/24 h) and left-sided nephrolithiasis found on
urinary tract ultrasound. The values of alpha 1 microglobulin, parathyroid hormone, vitamin D, serum
electrolytes, amino acids, glycols, oxalates and citrates in urine, as well as coagulation tests were normal.
Genetic testing excluded suspected Dent’s disease but confirmed heterozygous missense variant
CYP24A1 c.469C>T, p.(Arg157Trp) classified as polymorphism. He was treated with hydrochlorothiazide
and potassium citrate. Children presenting with hypercalcemia, hypercalciuria and nephrolithiasis
should be tested because of the importance of recognition, genetic diagnosis and proper treatment
of CYP24A1 mutations that can present with a wide range of phenotypic presentations, from
asymptomatic to chronic renal disease. |
| first_indexed | 2024-04-24T09:12:48Z |
| format | Article |
| id | doaj.art-8017c1de06444d37b19717f60f850329 |
| institution | Directory Open Access Journal |
| issn | 0353-9466 1333-9451 |
| language | English |
| last_indexed | 2024-04-24T09:12:48Z |
| publishDate | 2021-01-01 |
| publisher | Sestre Milosrdnice University hospital, Institute of Clinical Medical Research |
| record_format | Article |
| series | Acta Clinica Croatica |
| spelling | doaj.art-8017c1de06444d37b19717f60f8503292024-04-15T17:32:33ZengSestre Milosrdnice University hospital, Institute of Clinical Medical ResearchActa Clinica Croatica0353-94661333-94512021-01-0160.3.54454710.20471/acc.2021.60.03.27An Infant with Idiopathic Hypercalciuria and Nephrolithiasis Associated with CYP24A1 Enzyme Polymorphism: a Case ReportIvana Trutin0Iva Škorić1Department of Pediatrics, Sestre milosrdnice University Hospital Center, Zagreb, CroatiaDepartment of Pediatrics, Sestre milosrdnice University Hospital Center, Zagreb, CroatiaCYP24A1 is an enzyme that inactivates vitamin D and encodes vitamin D 24-hydroxylase. Mutations in this enzyme have been linked with idiopathic infantile hypercalcemia, nephrolithiasis, and nephrocalcinosis. Genetic testing for this mutation should be considered in the presence of calciuria, elevated serum calcium, elevated 1,25- dihydroxyvitamin D, and suppressed parathyroid hormone. We present a previously healthy eight-month-old male infant with macrohematuria, hypercalciuria (6 mg/kg/24 h), albuminuria (54 mg/24 h) and left-sided nephrolithiasis found on urinary tract ultrasound. The values of alpha 1 microglobulin, parathyroid hormone, vitamin D, serum electrolytes, amino acids, glycols, oxalates and citrates in urine, as well as coagulation tests were normal. Genetic testing excluded suspected Dent’s disease but confirmed heterozygous missense variant CYP24A1 c.469C>T, p.(Arg157Trp) classified as polymorphism. He was treated with hydrochlorothiazide and potassium citrate. Children presenting with hypercalcemia, hypercalciuria and nephrolithiasis should be tested because of the importance of recognition, genetic diagnosis and proper treatment of CYP24A1 mutations that can present with a wide range of phenotypic presentations, from asymptomatic to chronic renal disease.https://hrcak.srce.hr/file/393820Idiopathic hypercalciuriaNephrolithiasisMacrohematuriaCYP24A1Vitamin D |
| spellingShingle | Ivana Trutin Iva Škorić An Infant with Idiopathic Hypercalciuria and Nephrolithiasis Associated with CYP24A1 Enzyme Polymorphism: a Case Report Acta Clinica Croatica Idiopathic hypercalciuria Nephrolithiasis Macrohematuria CYP24A1 Vitamin D |
| title | An Infant with Idiopathic Hypercalciuria and Nephrolithiasis Associated with CYP24A1 Enzyme Polymorphism: a Case Report |
| title_full | An Infant with Idiopathic Hypercalciuria and Nephrolithiasis Associated with CYP24A1 Enzyme Polymorphism: a Case Report |
| title_fullStr | An Infant with Idiopathic Hypercalciuria and Nephrolithiasis Associated with CYP24A1 Enzyme Polymorphism: a Case Report |
| title_full_unstemmed | An Infant with Idiopathic Hypercalciuria and Nephrolithiasis Associated with CYP24A1 Enzyme Polymorphism: a Case Report |
| title_short | An Infant with Idiopathic Hypercalciuria and Nephrolithiasis Associated with CYP24A1 Enzyme Polymorphism: a Case Report |
| title_sort | infant with idiopathic hypercalciuria and nephrolithiasis associated with cyp24a1 enzyme polymorphism a case report |
| topic | Idiopathic hypercalciuria Nephrolithiasis Macrohematuria CYP24A1 Vitamin D |
| url | https://hrcak.srce.hr/file/393820 |
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