porozendoОстеопороз и остеопатииOsteoporosis and Bone Diseases2072-26802311-0716Endocrinology Research Centre10.14341/osteo10136porozendo-10136Research ArticleКлинический случай (или краткое сообщение)Case reportОпыт клинического применения асфотазы альфа у молодого пациента с детской формой гипофосфатазииClinical application experience of asfotase alfa for a young patient with childhood hypophosphatasiahttps://orcid.org/0000-0002-2000-7694КалинченкоНаталья ЮрьевнаKalinchenkoNataliya Y.

кандидат медицинских наук, ведущий научный сотрудник отделения тиреодологии соматического, репродуктивного здоровья

MD, PhD

kalinnat@rambler.ruhttps://orcid.org/0000-0003-2320-1051ГолоунинаОльга ОлеговнаGolouninaOlga O.

студентка 2-го курса лечебного факультета

Student, Medical faculty

olga.golounina@mail.ruhttps://orcid.org/0000-0003-1413-1549ГребенниковаТатьяна АлексеевнаGrebennikovaTatiana A.

кандидат медицинских наук, старший научный сотрудник отделения нейроэндокринологии и остеопатий

MD, PhD

grebennikova@hotmail.comhttps://orcid.org/0000-0002-5634-7877МельниченкоГалина АфанасьевнаMelnichenkoGalina A.

доктор медицинских наук, профессор, академик РАН, директор института Клинической эндокринологии

MD, PhD, Professor

teofrast2000@mail.ruhttps://orcid.org/0000-0001-8500-4841ТюльпаковАнатолий НиколаевичTiulpakovAnatoly N.

доктор медицинских наук, директор института персонализированной медицины

MD, PhD

anatolytiulpakov@gmail.comhttps://orcid.org/0000-0002-6674-6441БелаяЖанна ЕвгеньевнаBelayaZhanna E.

доктор медицинских наук, заведующая отделением нейроэндокринологии и остеопатий 

MD, PhD

jannabelaya@gmail.comФГБУ «Национальный медицинский исследовательский центр эндокринологии»Минздрава РоссииРоссияEndocrinology Research CentreRussian FederationФГАОУ ВО Первый МГМУ им. И.М. Сеченова Минздрава России (Сеченовский Университет)РоссияI.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)Russian Federation2019211120192212429Copyright © Калинченко Н.Ю., Голоунина О.О., Гребенникова Т.А., Мельниченко Г.А., Тюльпаков А.Н., Белая Ж.Е., 20192019Калинченко Н.Ю., Голоунина О.О., Гребенникова Т.А., Мельниченко Г.А., Тюльпаков А.Н., Белая Ж.Е.Kalinchenko N.Y., Golounina O.O., Grebennikova T.A., Melnichenko G.A., Tiulpakov A.N., Belaya Z.E.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.osteo-endojournals.ru/jour/article/view/10136

Гипофосфатазия – редкое наследственное метаболическое заболевание, проявляющееся дефектами минерализации костей скелета и зубов, системными осложнениями, приводящими к инвалидизации больных. В зависимости от возраста манифестации и тяжести симптомов различают шесть форм гипофосфатазии. Клиническая картина заболевания обусловлена накоплением пирофосфатов вследствие снижения ферментативной активности неспецифического тканевого изофермента щелочной фосфатазы. Единственной патогенетической терапией является пожизненная фермент-заместительная терапия асфотазой альфа. Применение данного препарата у пациентов с перинатальной, инфантильной и детской формами гипофосфатазии позволяет значительно улучшить качество жизни и общую выживаемость. Опыт использования рекомбинантной щелочной фосфатазы у взрослых в мире ограничен. В данной статье приведено описание клинического случая 18-летнего пациента с поздней диагностикой детской формы гипофосфатазии и поздним началом терапии патогенетическим генно-инженерным препаратом щелочной фосфатазы – асфотазой альфа.

Hypophosphatasia (HPP) is a rare hereditary metabolic disease characterized by defective bone and dental mineralization, systemic complications that lead to disability of patients. HPP is classified into six forms according to the age of onset and severity of its clinical picture. The disease is caused by a reduced activity of the tissue nonspecific alkaline phosphatase (TNSALP) and elevated concentrations of pyrophosphates. Asfotase alfa is the only pathogenetic enzyme replacement therapy with recombinant human bone-targeted TNSALP approved for treatment of patients with perinatal, infantile and juvenile‐onset HPP. This treatment is associated with improved skeletal mineralization, respiratory function and overall survival in infants and young children with life-threatening hypophosphatasia. The world experience in application of recombinant alkaline phosphatase in adults is very limited. We present a clinical case that describes the first Russian experience in the use of asfotase alfa in an 18-year-old patient with late diagnosis of childhood-onset HPP.

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The authors declare that there are no conflicts of interest present.