Diagnosis, treatment, and follow-up of patients with hypophosphatasia.

ABSTRACT:

Introduction

Hypophosphatasia is a rare inherited systemic metabolic disorder, with an estimated prevalence in the severe forms of the disease of 1/100.000-1/300.000, that affects the typical architecture of bone, leading to defective mineralization during growth and remodeling. It is characterized by loss-of-function variants in the ALPL gene, resulting in low activity of tissue-nonspecific alkaline phosphatase. In severe cases, it can be fatal.

Objective

To generate recommendations on the diagnosis, treatment, and follow-up of patients with hypophosphatasia based on available evidence.

Materials and methods

A search for evidence published between 2012 and 2024 was carried out in Medline and Embase. The search was expanded with information from various sources, inclu

SUBMITTER: Cardenas-Aguilera JG 

PROVIDER: S-EPMC11811241 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature