Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.

ABSTRACT:

Background

Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP (ORPHA 436). Its clinical presentation is highly heterogeneous with a remarkably wide-ranging severity. HPP affects patients of all ages. In children HPP-related musculoskeletal symptoms may mimic rheumatologic conditions and diagnosis is often difficult and delayed. To improve the understanding of HPP in children and in order to shorten the diagnostic time span in the future we studied the natural history of the disease in our large cohort of pediatric patients. This single centre retrospective chart review included longitudinal data from 50 patients with HPP diagnosed and followed at the Unive

SUBMITTER: Vogt M 

PROVIDER: S-EPMC7436954 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature