[Prevalence of hypophosphatasia in adult patients in rheumatology].

ABSTRACT:

Background

Hypophosphatasia (HPP) is a genetic disorder caused by one or more mutations in the alkaline phosphatase (ALP) gene, responsible for encoding tissue-specific ALP and for the mineralization process.

Objective

Identification of the prevalence of HPP in rheumatology patients.

Material and methods

Medical records of all adult rheumatology patients with pathologically low total ALP levels (<35 U/L) treated in the Department of Rheumatology at the Clinic of Internal Medicine III, University Hospital Bonn between January 2017 and June 2019, were retrospectively examined for clinical signs as well as for results of genetic tests for HPP.

Results

In 60 out of 2289 patients (2.62%) pathologically low ALP levels were detected. Of these 30 (1.31%) were found to

SUBMITTER: Karakostas P 

PROVIDER: S-EPMC9338116 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature