Acta clinica Croatica, Vol. 60. No. 3., 2021.
Recenzija, Prikaz slučaja
https://doi.org/10.20471/acc.2021.60.03.27
An Infant with Idiopathic Hypercalciuria and Nephrolithiasis Associated with CYP24A1 Enzyme Polymorphism: a Case Report
Ivana Trutin
orcid.org/0000-0001-8419-0427
; Department of Pediatrics, Sestre milosrdnice University Hospital Center, Zagreb, Croatia
Iva Škorić
orcid.org/0000-0002-0710-3243
; Department of Pediatrics, Sestre milosrdnice University Hospital Center, Zagreb, Croatia
Sažetak
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.
Ključne riječi
Idiopathic hypercalciuria; Nephrolithiasis; Macrohematuria; CYP24A1; Vitamin D
Hrčak ID:
271715
URI
Datum izdavanja:
1.9.2021.
Posjeta: 1.083 *