Latin-American consensus on the transition into adult life of patients with X-linked hypophosphatemia.

ABSTRACT:

Introduction

X-linked hypophosphatemia is an orphan disease of genetic origin and multisystem involvement. It is characterized by a mutation of the PHEX gene which results in excess FGF23 production, with abnormal renal and intestinal phosphorus metabolism, hypophosphatemia and osteomalacia secondary to chronic renal excretion of phosphate. Clinical manifestations include hypophosphatemic rickets leading to growth abnormalities and osteomalacia, myopathy, bone pain and dental abscesses. The transition of these patients to adult life continues to pose challenges to health systems, medical practitioners, patients and families. For this reason, the aim of this consensus is to provide a set of recommendations to facilitate this process and ensure adequate management and follow-up, as w

SUBMITTER: Kastelic MS 

PROVIDER: S-EPMC10987342 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature