Hypophosphatasia. Review of clinical cases published in the Russian Federation

Hypophosphatasia. Review of clinical cases published in the Russian Federation

E.Yu. Gurkina¹, V.Yu. Voinova², L.M. Kuzenkova³, I.B. Sosnina⁴, A.V. Vitebskaya⁵, M.M. Kostik⁶, N.S. Shatokhina⁷, I.Yu. Chernyak⁷, E.B. Khramova⁸, E.S. Romanenko⁹, A.S. Vyatkina¹⁰, A.V. Abrukova¹¹

¹V.A. Almazov National Medical Research Center, Saint Petersburg

²Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow

³National Medical Research Center for Children’s Health, Moscow

⁴Children’s Consultative and Diagnostic Center, Saint Petersburg

⁵Clinical Institute of Child Health named after N.F. Filatov of the First Moscow State Medical University named after I.M. Sechenov (Sechenov University), Moscow

⁶Saint-Petersburg State Pediatric Medical University, Saint Petersburg

⁷Children’s Regional Clinical Hospital, Krasnodar

⁸Tumen State Medical University, Tumen

⁹South Ural State Medical University, Chelyabinsk

¹⁰Children’s Regional Clinical Hospital, Perm

¹¹Presidential Perinatal Center, Cheboksary

Hypophosphatasia (HPP) is a rare polymorphic disease that has different clinical manifestations depending on the age during disease onset and its severity. A wide range of symptoms affects various organs and systems, such as the musculoskeletal system (bones, muscles, joints), respiratory system, nervous system and kidneys, which can have a significant impact on the patient’s physical health and life quality. The prevalence of severe HPP in the European population is known, however, it is difficult to assess the prevalence of milder HPP forms due to the significant heterogeneity of clinical manifestations and the lower frequency of diagnosis. The review provides a modern view concerning HPP etiology and pathogenesis, as well as discusses diagnostic criteria and treatment options. Data from published clinical cases of HPP are also presented. Thus, as of 2020, Russian medical literature described 16  cases of children with the diagnosis of hypophosphatasia. The analysis of clinical cases published in Russian medical scientific journals has shown recommendation expediency to assess the level of tissue-specific alkaline phosphatase in the presence of any bone pathology with rickets-like manifestations in the patient.

Keywords: hypophosphatasia, HPP, tissue-specific alkaline phosphatase, TNSALP, ALPL gene, asfotase alfa, rickets-like diseases.

For citation: Gurkina E.Yu., Voinova V.Yu., Kuzenkova L.M. et al. Hypophosphatasia. Review of clinical cases published in the Russian Federation. RMJ. 2021;2:42–48.