CLINICAL GUIDELINES FOR THE DIAGNOSIS AND TREATMENT OF HYPOPHOSPHATASIA

Abstract

Hypophosphatasia (HPP) is rare inborn error of metabolism caused by absent or virtually absent alkaline phosphatase (ALP) enzyme activity. HPP involves congenital profound skeletal hypomineralization leading to rickets or osteomalacia. The effective enzyme replacement therapy (ERT) for HPP was developed during last years. The guideline for diagnosis and management of patients with hPpwas elaborated by Russian panel of experts. The guideline includes the current classification, the description of specific mechanisms of pathogenesis and the diagnostic algorithm of HPP. The recommendations for optimal supportive care as well as the first results of ERT for HPP were presented in this guideline.