Mevlana Tıp Bilimleri

1 articles published in Mevlana Tıp Bilimleri with the keyword "hypercalcemia": Case Report of Idiopathic Infantile Hypercalcemia due to homozygous mutation in SLC34A1 gene

Case Report of Idiopathic Infantile Hypercalcemia due to homozygous mutation in SLC34A1 gene

YEŞİM KÜÇÜKKAĞNICI, BERAY SELVER EKLİOĞLU, MEHMET EMRE ATABEK, SERDAR CEYLANER

Mevlana Tıp Bilimleri, 2022, Vol 2, Issue 2, Page 75-77

ABSTRACT Idiopathic infantile hypercalcemia (IHH) is a rare cause of hypercalcemia. It is a disease characterized by dehydration, vomiting and failure to thrive, most commonly caused by mutations in 24-hydroxylase (CYP24A1). Recently, mutations in the sodium phosphate cotransporter (SLC34A1)...

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infantHiperkalseminefrolithiyazisnephrolithiasis