Clinical phenotypes and variants of mutations of the <i>ALPL</i> gene in children with hypophosphatasia, enzyme replacement therapy with Asfotase alfa: literature and clinical case data

Abstract

The article presents current literature data on clinical phenotypes and variants of ALPL gene mutations, the effectiveness of enzyme replacement therapy with asfotase alfa in children with hypophosphatasia (HPP). HPP is inherited disease ORPHA (436). The OMIM catalog contains forms of HPP: perinatal (lethal), infantile; hypophosphatasia of childhood; hypophosphatasia in adults; odontohypophosphatasia. M.E. Nunes (2023) considers 7 forms of HPP, taking into account the age and severity of the clinical manifestation. As a result of worldwide molecular genetic studies, fundamental information has been obtained on the phenotypic features of the manifestation and severity of HFF in pediatric patients, depending on the variants of the ALPL gene mutations. Molecular genetics diagnosis and enzyme replacement therapy with Asfotase alfa in our country are guaranteed for children with HPP at the expense of the «Krug Dobra Foundation», the founder of the foundation is the Ministry of Health of the Russian Federation. The article presents a clinical observation of a proband with hypophosphatasia receiving Asfotase alfa.