Abstract Search

hrp0098p1-216 | Bone, Growth Plate and Mineral Metabolism 3 | ESPE2024

Characterization of a large cohort of 99 argentinian patients with hereditary hypophosphatemic rickets (HHR) followed in a single pediatric tertiary center

Viterbo Gisela , Del Pino Mariana , Aziz Mariana , Abbate Silvina , Perez Garrido Natalia , Ramirez Pablo , Saraco Nora , Tesan Fiorella , Ciaccio Marta , Gabriela Obregón María , Fano Virginia , Belgorosky Alicia , Marino Roxana

Background: Hereditary hypophosphatemic rickets (HHR) comprises a group of rare disorders characterized by renal phosphate wasting and impaired vitamin D metabolism. Numerous genetic defects can underlie this condition, with the X-linked dominant form (XLHR) being the most prevalent (1 in 20,000 individuals) resulting from inactivating variants in the PHEX gene.Aim: To characterize a large cohort of 99 argentini...

0 shares

ESPE Abstracts

Characterization of a large cohort of 99 argentinian patients with hereditary hypophosphatemic rickets (HHR) followed in a single pediatric tertiary center

BiosciAbstracts