Article
Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 23 Jul 2021
Janiec Agnieszka, Halat-Wolska Paulina, Obrycki Łukasz, Ciara Elżbieta, Wójcik Marek, Płudowski Paweł, Wierzbicka Aldona, Kowalska Ewa, Książyk Janusz B, Kułaga Zbigniew, Pronicka Ewa, Litwin Mieczysław
Abstract excerpt
BACKGROUND: Infantile hypercalcaemia (IH) is a vitamin D3 metabolism disorder. The molecular basis for IH is biallelic mutations in the CYP24A1 or SLC34A1 gene. These changes lead to catabolism disorders (CYP24A1 mutations) or excessive generation of 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] (SLC34A1 mutations). The incidence rate of IH in children and the risk level for developing end-stage renal disease (ESRD) are...
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