Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia.

ABSTRACT:

Purpose

The study aimed to define the clinical, biochemical and genetic features of adult patients with osteopenia/osteoporosis and/or bone fragility and low serum alkaline phosphatase (sALP).

Methods

Twenty-two patients with at least two sALP values below the reference range were retrospectively enrolled after exclusion of secondary causes. Data about clinical features, mineral and bone markers, serum pyridoxal-5'-phosphate (PLP), urine phosphoethanolamine (PEA), lumbar and femur bone densitometry, and column X-ray were collected. Peripheral blood DNA of each participant was analyzed to detect ALPL gene anomalies.

Results

Pathogenic ALPL variants (pALPL) occurred in 23% and benign variants in 36% of patients (bALPL), while nine patients harbored wild-type alleles (wt

SUBMITTER: Guarnieri V 

PROVIDER: S-EPMC8741696 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature