Педиатрическая фармакология (Jan 2021)
Current Approaches in Management of Patients with Hypophosphatasia
- Alexander A. Baranov,
- Leyla S. Namazova-Baranova,
- Sergey I. Kutsev,
- Tea V. Margieva,
- Nato D. Vashakmadze,
- Elena A. Vishneva,
- Lilia R. Selimzyanova,
- Elena Yu. Voskoboeva,
- Ekaterina Yu. Zakharova,
- Ludmila M. Kuzenkova,
- Tina V. Lobzhanidze,
- Lyudmila K. Mikhaylova,
- Olga A. Polyakova,
- Svetlana V. Mikhaylova,
- Sergei V. Moiseev,
- Tatiana V. Podkletnova,
- Alla N. Semechkina,
- Olga V. Udalova,
- Alisa V. Vitebskaya,
- Larisa P. Kisel’nikova,
- Mikhail M. Kostik
Affiliations
- Alexander A. Baranov
- Research Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”; Sechenov First Moscow State Medical University
- Leyla S. Namazova-Baranova
- Research Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”; Pirogov Russian National Research Medical University; Belgorod National Research University
- Sergey I. Kutsev
- Research Centre for Medical Genetics
- Tea V. Margieva
- Research Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”
- Nato D. Vashakmadze
- Research Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”; Pirogov Russian National Research Medical University
- Elena A. Vishneva
- Research Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”; Pirogov Russian National Research Medical University
- Lilia R. Selimzyanova
- Research Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”; Pirogov Russian National Research Medical University
- Elena Yu. Voskoboeva
- Research Centre for Medical Genetics
- Ekaterina Yu. Zakharova
- Research Centre for Medical Genetics
- Ludmila M. Kuzenkova
- National Medical Research Center of Children’s Health
- Tina V. Lobzhanidze
- City Clinical Hospital № 64
- Lyudmila K. Mikhaylova
- National Medical Research Center of Traumatology and Orthopedics named after N.N. Priorov
- Olga A. Polyakova
- National Medical Research Center of Traumatology and Orthopedics named after N.N. Priorov
- Svetlana V. Mikhaylova
- Pirogov Russian National Research Medical University
- Sergei V. Moiseev
- Sechenov First Moscow State Medical University
- Tatiana V. Podkletnova
- National Medical Research Center of Children’s Health
- Alla N. Semechkina
- Veltischev Research and Clinical Institute for Pediatrics
- Olga V. Udalova
- Privolzhsky Research Medical University
- Alisa V. Vitebskaya
- Sechenov First Moscow State Medical University
- Larisa P. Kisel’nikova
- A.I. Yevdokimov Moscow State University of Medicine and Dentistry
- Mikhail M. Kostik
- Saint Petersburg State Pediatric Medical University; Almazov National Medical Research Centre
- DOI
- https://doi.org/10.15690/pf.v17i6.2202
- Journal volume & issue
-
Vol. 17,
no. 6
pp. 519 – 528
Abstract
he authors present the latest data on the hypophosphatasia (HPP) management in children. Hypophosphatasia is a rare genetic disease caused by deficiency of tissue-specific alkaline phosphatase due to mutation in the ALPL gene. The article covers all the features of epidemiology, etiology and pathogenesis, detailed stages of differential diagnostics. Treatment guidelines for pediatric patients are provided, they are based on the principles of evidence-based medicine. Special attention was given to the only effective method of hypophosphatasia management —enzyme replacement therapy (ERT). This material is the clinical guideline draft for the management of patients with hypophosphatasia prepared by the Union of Pediatricians of Russia and the Association of Medical Geneticists.
Keywords
- hypophosphatasia
- alkaline phosphatase
- seizures
- pulmonary hypoplasia
- rickets
- osteoporosis
- nephrocalcinosis
- man- agement
- children
