Preview

Pediatric pharmacology

Advanced search

Managing Children with Gaucher Disease: Modern Clinical Recommendations

https://doi.org/10.15690/pf.v13i3.1574

Abstract

The focus of this article is Gaucher disease — a rare enough hereditary pathology. The authors present the most up-to-date epidemiological data and features of Gaucher disease etiopathogenesis. They offer clinical characteristics for the various types of this disease. The algorithm and crucial steps of differential diagnosis are described in detail. Also, the tactic and algorithms of enzymereplacing therapy (pathogenetic treatement of this hereditary enzymopathy) are carefully presented, together with the modern scheme of managing patients according to the corresponding health care delivery stages.

About the Authors

A. A. Baranov
Scientific Center of Children’s Health, Moscow, Russian Federation Sechenov First Moscow State Medical University, Moscow, Russian Federation
Russian Federation


L. S. Namazova-Baranova
Scientific Center of Children’s Health, Moscow, Russian Federation Sechenov First Moscow State Medical University, Moscow, Russian Federation Pirogov Russian National Research Medical University, Moscow, Russian Federation
Russian Federation


O. S. Gundobina
Scientific Center of Children’s Health, Moscow, Russian Federation
Russian Federation


E. A. Lukina
Hematology Scientific Center, Moscow, Russian Federation
Russian Federation


A. K. Gevorkyan
Scientific Center of Children’s Health, Moscow, Russian Federation Sechenov First Moscow State Medical University, Moscow, Russian Federation
Russian Federation


K. V. Savostyanov
Scientific Center of Children’s Health, Moscow, Russian Federation
Russian Federation


A. A. Pushkov
Scientific Center of Children’s Health, Moscow, Russian Federation
Russian Federation


E. A. Vishnyova
Scientific Center of Children’s Health, Moscow, Russian Federation
Russian Federation


G. B. Movsisyan
Scientific Center of Children’s Health, Moscow, Russian Federation Pirogov Russian National Research Medical University, Moscow, Russian Federation
Russian Federation


References

1. Baldellou A, Andria G, Campbell PE, et al. Paediatric nonneuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr. 2004;163:67–75.

2. Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med. 1998;158:1754–1760.

3. Grabowski GA, Andria G, Baldellou A, et al. Pediatric nonneuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr. 2004;163:58–66.

4. Vellodi A, Bembi B, de Villemeur TB, et al. Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis. 2001;24:319–327.

5. Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymanska A. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41 (4 Suppl 5)4–14.

6. Kaplan PI, Baris H, De Meirleir L, Di Rocco M, El-B eshlawy A, Huemer M, Martins AM, Nascu I, Rohrbach M, Steinbach L, Cohen IJ. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr. 2013;Apr;172(4):447–58.

7. Robertson PL, Maas M, Goldblatt J. Semiquantitative assessment of skeletal response to enzyme replacement therapy for Gaucher’s disease using the bone marrow burden score. AJR Am J Roentgenol. 2007;188:1521–1528.

8. Neal J. Weinreb, Jack Goldblatt, Jacobo Villalobos, Joel Charrow, J. Alexander Cole, Marcelo Kerstenetzky, Stephan vom Dahl, Carla Hollak. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis. 2012 Sep 14.

9. Инструкция к лекарственному препарату: http://grls.rosminzdrav.ru/Grls_View_v2.aspx?idReg=10644&t=

10. Charrow J., Dulisse B., Grabowski G., Weinreb N. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clinical Genetics, 2007;71: 205–211. doi: 10.1111/j.1399-0004.2007.00769.x

11. Sims K., Pastores G., Weinreb N., Barranger J., Rosenbloom B., Packman S., Kaplan P., Mankin H., Xavier R., Angell J., Fitzpatrick M., Rosenthal D. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clinical Genetics. 2008;73:430– 440. doi: 10.1111/j.1399-0004.2008.00978.x

12. Инструкция к лекарственному препарату: http://grls.rosminzdrav.ru/Grls_View_v2.aspx?idReg=36175&t=

13. Gonzalez DE, Turkia HB, Lukina EA, Kisinovsky I, Dridi M-FB, Elstein D, Zahrieh D, Crombez E, Bhirangi K, Barton NW, Zimran A. Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study. Am J Hematol, 2013;88:166–171. doi: 10.1002/ ajh.23381

14. Pastores GM, Rosenbloom B, Weinreb N, et al. A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability. Genetics in Medicine. 2014;16(5):359–366. doi:10.1038/gim.2013.154.

15. Giraldo P, et al. Safety and efficacy of velaglucerase alfa in children with type 1 Gaucher disease: 2-year experience. Poster presented at the American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting. Charlotte, North Carolina, USA. 2012, March 27–31.


Review

For citations:


Baranov A.A., Namazova-Baranova L.S., Gundobina O.S., Lukina E.A., Gevorkyan A.K., Savostyanov K.V., Pushkov A.A., Vishnyova E.A., Movsisyan G.B. Managing Children with Gaucher Disease: Modern Clinical Recommendations. Pediatric pharmacology. 2016;13(3):244-250. (In Russ.) https://doi.org/10.15690/pf.v13i3.1574

Views: 1449


ISSN 1727-5776 (Print)
ISSN 2500-3089 (Online)