Педиатрическая фармакология (Aug 2023)
Modern Approaches to the Management of Children with Hypophosphatasia
- Aleksander A. Baranov,
- Tatiana T. Batysheva,
- Olga V. Bykova,
- Nato D. Vashakmadze,
- Elena V. Vislobokova,
- Alisa V. Vitebskaya,
- Elena A. Vishneva,
- Victoria Yu. Voynova,
- Natalia V. Zhurkova,
- Ekaterina Yu. Zakharova,
- Larisa P. Kisel'nikova,
- Mikhail M. Kostik,
- Sergey I. Kutsev,
- Tea V. Margieva,
- Leyla S. Namazova-Baranova,
- Svetlana V. Mikhaylova,
- Sergey V. Moiseev,
- Tatyana S. Nagornaya,
- Liliia R. Selimzyanova,
- Alla N. Semyachkina,
- Olga Ya. Smirnova,
- Marina V. Fedoseenko,
- Svetlana V. Pishchal'nikova
Affiliations
- Aleksander A. Baranov
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Sechenov First Moscow State Medical University
- Tatiana T. Batysheva
- Scientific and Practical Center for Pediatric Psychoneurology of Moscow Health Department; Russian People's Friendship University
- Olga V. Bykova
- Scientific and Practical Center for Pediatric Psychoneurology of Moscow Health Department; Russian People's Friendship University
- Nato D. Vashakmadze
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
- Elena V. Vislobokova
- Moscow State University of Medicine and Dentistry named after A.I. Evdokimov
- Alisa V. Vitebskaya
- Sechenov First Moscow State Medical University
- Elena A. Vishneva
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
- Victoria Yu. Voynova
- Pirogov Russian National Research Medical University; Veltischev Research and Clinical Institute for Pediatrics
- Natalia V. Zhurkova
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery
- Ekaterina Yu. Zakharova
- Research Centre for Medical Genetics
- Larisa P. Kisel'nikova
- Moscow State University of Medicine and Dentistry named after A.I. Evdokimov
- Mikhail M. Kostik
- Saint-Petersburg State Pediatric Medical University; Almazov National Medical Research Centre
- Sergey I. Kutsev
- Research Centre for Medical Genetics
- Tea V. Margieva
- Sechenov First Moscow State Medical University; Research and Clinical Institute for Children
- Leyla S. Namazova-Baranova
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
- Svetlana V. Mikhaylova
- Moscow State University of Medicine and Dentistry named after A.I. Evdokimov; Russian Children's Clinical Hospital
- Sergey V. Moiseev
- Sechenov First Moscow State Medical University
- Tatyana S. Nagornaya
- Research Centre for Medical Genetics
- Liliia R. Selimzyanova
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Sechenov First Moscow State Medical University; Pirogov Russian National Research Medical University
- Alla N. Semyachkina
- Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery
- Olga Ya. Smirnova
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery
- Marina V. Fedoseenko
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
- Svetlana V. Pishchal'nikova
- All-Russian Society of Orphan Diseases
- DOI
- https://doi.org/10.15690/pf.v20i4.2601
- Journal volume & issue
-
Vol. 20,
no. 4
pp. 318 – 336
Abstract
Hypophosphatasia is rare genetic disease caused by tissue-nonspecific alkaline phosphatase deficiency due to the mutation in the ALPL gene. Disease can manifest in utero, in childhood or in adults depending on its form and severity. This article presents modern data on the epidemiology, etiology, and clinical signs of hypophosphatasia in children, covers in details differential diagnostic search, and gives guidelines for its evidence-based treatment. Without timely treatment the prognosis of the disease is unfavorable in most cases. Such patients require follow-up by multidisciplinary team of physicians. The only effective method of treatment is enzyme replacement therapy with asfotase alfa. Symptomatic therapy is also crucial as well as physiotherapeutic procedures and therapeutic exercise programs (at rehabilitation stage).
Keywords
