Clinical and genetic characteristics of hypophosphatasia in Chinese children.

ABSTRACT:

Background

Hypophosphatasia (HPP) is a rare inherited disorder, which is caused by loss-of-function mutations in the ALPL gene. HPP is a heterogeneous disease that has a wide spectrum of phenotypes. Few studies were carried out in the Chinese population with HPP, especially in children.

Methods

The clinical and genetic characteristics of 10 Chinese children with HPP who were referred to the Beijing Children's Hospital were described. Previously reported HPP cases of children in China were also reviewed.

Results

A total of 33 cases were identified, which included 2 perinatal lethal HPP, 10 infantile HPP, 10 childhood HPP, and 11 odonto HPP. The male-to-female ratio was 24:9. The average age at onset was 0.69 years (ranged from 2 h after birth to 14 years), while the av

SUBMITTER: Liu M 

PROVIDER: S-EPMC8028151 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature