The first experience of the enzyme replacement therapy for hypophosphatasia in Russia 
Kalinchenko N.Yu.¹, Tyulpakov A.N.¹, Kireeva A.S.², Chernyak I.V.³, Zabolotskich T.V.⁴, Serga A.P.², Nizovskaya E.V.², Smolina O.I.2, Batin D.A.<sup>2

1</sup> Endocrinology Research Center, Moscow
² Amur Regional Children's Hospital, Blagoveshchensk
³ Children's Regional Clinical Hospital, Krasnodar
⁴ Amur State Medical Academy, Blagoveshchensk

The paper describes current view on hypophosphatasia (HPP) - a rare hereditary disease caused by deficiency of tissue-nonspecific alkaline phosphatase. HPP has very broad spectrum of clinical symptoms. HPP is characterized by poor skeletal mineralization, respiratory failure, neurological disorders (pyridoxine-dependent seizures), hypercalcemia, delayed physical development and premature loss of teeth. There are several forms of HPP depending on the symptoms onset time. The most severe forms occur in utero or in infancy and are characterized by high mortality rate. The main HPP features in childhood are bone deformation, short stature, physical retardation, teeth loss. In this publication we present results of Russia's first experience of the enzyme replacement therapy for the treatment of two forms of HPP. Both patients showed significant improvement during first weeks of therapy (absence of the neurological disorders, positive dynamics of skeletal changes, recorded radiographically in 3 months after treatment initiation). 

Key words: hypophosphatasia, HPP, tissue-nonspecific alkaline phosphatase, hypercalcemia, children, enzyme replacement therapy, asfotase alfa.

For citation: Kalinchenko N.Yu., Tyulpakov A.N., Kireeva A.S. et al. The first experience of the enzyme replacement therapy for hypophosphatasia in Russia // RMJ. 2016. № 18. P. 1235–1240.