Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.

ABSTRACT:

Background

X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the major manifestations of XLH in children, but there is a broad phenotypic variability. Few publications have reported large series of patients. Current data on the clinical spectrum of the disease, the correlation with the underlying gene mutations, and the long-term outcome of patients on conventional treatment are needed, particularly because of the recent availability of new specific medications to treat XLH.

Results

The RenalTube database was used to retrospectively analyze 48 Spanish patients (15 men) from 39 different families, ranging from 3 months to

SUBMITTER: Rodriguez-Rubio E 

PROVIDER: S-EPMC7912818 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature