Case report: two heterozygous pathogenic variants of cyp24a1: a novel cause of hypercalcemia and nephrocalcinosis in adulthood

HIGHLIGHTS

• who: Ludmila Brunerova from the Osmania Medical College, India Medicine, Charles University, Nefromed, Department of Biology have published the article: Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood, in the Journal: (JOURNAL)

SUMMARY

Since 2013 (ramipril 5 mg daily and felodipine 5 mg daily). Genetic analysis of the calcium-sensing receptor (Ca-SR) gene, performed due to low PTH and initially lower serum calcium, did not find any pathogenic variants. Serum calcium levels progressively increased during the follow-up, and thus, hydrochlorothiazide was stopped . . .

 



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