Modern Approaches to the Management of Children with Hypophosphatasia-Reference-Cited by-同舟云学术

Modern Approaches to the Management of Children with Hypophosphatasia

Published:2023-08-22 Issue:4 Volume:20 Page:318-336
ISSN:2500-3089
Container-title:Pediatric pharmacology
language:
Short-container-title:Pediatr. farmakol.

Author:

Baranov Aleksander A.¹^ORCID,Batysheva Tatiana T.²^ORCID,Bykova Olga V.²^ORCID,Vashakmadze Nato D.³^ORCID,Vislobokova Elena V.⁴^ORCID,Vitebskaya Alisa V.⁵^ORCID,Vishneva Elena A.³^ORCID,Voynova Victoria Yu.⁶^ORCID,Zhurkova Natalia V.⁷^ORCID,Zakharova Ekaterina Yu.⁸^ORCID,Kisel'nikova Larisa P.⁴^ORCID,Kostik Mikhail M.⁹^ORCID,Kutsev Sergey I.⁸^ORCID,Margieva Tea V.¹⁰^ORCID,Namazova-Baranova Leyla S.³^ORCID,Mikhaylova Svetlana V.¹¹^ORCID,Moiseev Sergey V.⁵^ORCID,Nagornaya Tatyana S.⁸^ORCID,Selimzyanova Liliia R.¹²^ORCID,Semyachkina Alla N.¹³^ORCID,Smirnova Olga Ya.⁷^ORCID,Fedoseenko Marina V.³^ORCID,Pishchal'nikova Svetlana V.¹⁴

Affiliation:

1. Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Sechenov First Moscow State Medical University

2. Scientific and Practical Center for Pediatric Psychoneurology of Moscow Health Department; Russian People's Friendship University

3. Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University

4. Moscow State University of Medicine and Dentistry named after A.I. Evdokimov

5. Sechenov First Moscow State Medical University

6. Pirogov Russian National Research Medical University; Veltischev Research and Clinical Institute for Pediatrics

7. Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery

8. Research Centre for Medical Genetics

9. Saint-Petersburg State Pediatric Medical University; Almazov National Medical Research Centre

10. Sechenov First Moscow State Medical University; Research and Clinical Institute for Children

11. Moscow State University of Medicine and Dentistry named after A.I. Evdokimov; Russian Children's Clinical Hospital

12. 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

13. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery

14. All-Russian Society of Orphan Diseases

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).

Publisher

Paediatrician Publishers LLC

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Reference54 articles.

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