GAUCHER’S DISEASE
https://doi.org/10.15690/pf.v10i6.899
Abstract
The article gives data on epidemiology, pathogenesis, modern classification and the main clinical manifestations of Gaucher’s disease in children; it also gives criteria of differential diagnostics with other diseases. The article shows that the only effective method of treating Gaucher’s disease is pathogenic enzyme-substitutive therapy which arrests the main clinical manifestations of the disease improving life quality of patients without pronounced side effects. Imiglucerase is used for such treatment; it causes hydrolysis of glucocerebroside into glucose and ceramide (regular metabolism of membrane lipids). Imiglucerase is indicated for long-term enzyme-substitutive therapy in patients with confirmed Gaucher’s disease (types 1 and 3). It is recommended to monitor condition of patients in the setting of therapy in compliance with the requirements of the International Collaborative Gaucher Group. The article cites the main mistakes of diagnostics and management of such patients and ungrounded prescriptions when treating this disease.
About the Authors
O. S. Gundobina
Scientific Center of Children’s Health of RAMS, Moscow
Russian Federation
MD, head of the department of rehabilitation treatment of children with diseases of the digestive system of the Research Institute of Preventive Pediatrics and Rehabilitation Treatment of Scientific Center of Children's Health, RAMS
Russian Federation
MD, head of the department of rehabilitation treatment of children with diseases of the digestive system of the Research Institute of Preventive Pediatrics and Rehabilitation Treatment of Scientific Center of Children's Health, RAMS
E. V. Komarova
Scientific Center of Children’s Health of RAMS, Moscow, Russian Federation
Russian Federation
Russian Federation
L. S. Namazova-Baranova
Scientific Center of Children’s Health of RAMS, Moscow, Russian Federation
The First Sechenov Moscow State Medical University, Russian Federation
Pirogov Russian National Medical Research University, Moscow, Russian Federation
Russian Federation
Russian Federation
А. K. Gevorkyan
Scientific Center of Children’s Health of RAMS, Moscow, Russian Federation
Russian Federation
Russian Federation
G. B. Movsisyan
Scientific Center of Children’s Health of RAMS, Moscow, Russian Federation
Russian Federation
Russian Federation
References
1. Mankin H. J., Rosenthal D. I., Xavier R. Gaucher disease. New approaches to an ancient disease. J. Bone Joint Surg. Am. 2001; 83A: 748–762.
2. Koprivica V. V., Stone D. L., Park J. K., Callahan M., Frisch A., Cohen I. J. et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am. J. Hum. Genet. 2000; 66 (6): 1777–1786.
3. Pastores G. M., Weinreb N. J., Aerts H., Andria G., Cox T.M., Giralt M. et al. Therapeutic goals in the treatment of Gaucher disease. Supp. Semin. Hematol. 2004; 41 (5): 4–14.
4. Andersson H., Kaplan P., Kacena K., Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics. 2008; 122 (6): 1182–1190.
5. Weinreb N. J., Taylor J., Cox T., Yee J., vom Dahl S. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. Am. J. Hematol. 2008; 83: 890–895.
6. Atlas redkikh boleznei. pod red. A.A. Baranova, L.S. Namazovoi-Baranovoi [Atlas of Rare Diseases. Edited by A.A. Baranov, L.S. Namazova-Baranova]. Moscow, Pediatr"", 2013. 304 p.
7. Wenstrup R. J., Kacena K. A., Kaplan P., Pastores G. M., Prakash-Cheng A., Zimran A. et al. Effect of enzyme replacement therapy with imiglucerase on BMD in type I Gaucher disease. JBMR Reprint. 2007; 22 (1): 119–126.
8. Wenstrup R. J., Roca-Espiau M., Weinreb N. J., Bembi B. Skeletal aspects of Gaucher disease: a review. Br. J. Radiol. 2002; 75 (1): 2–12.
9. Bembi В., Ciana G., Mengel E., Terk M. R., Martini C., Wenstrup R. J. Bone complications in children with Gaucher disease. Br. J. Radiol. 2002; 75 (1): 37–43.
10. Gundobina O. S., Malakhov O. O., Morev S. Yu., Malakhov O. A. Doktor Ru = Doctor.RU. 2011; 5 (64): 10–14.
11. Vellodi A., Bembi B., de Villemeur T. B., Collin-Histed T., Erikson A., Mengel E. et al. Management of neuronopathic Gaucher disease: а European consensus. J. Inherit. Metab. Dis. 2001; 24 (3): 319–327.
12. Baldellou A., Andria G., Campbell P. E., Charrow J., Cohen I. J., Grabowski G. A. et al. Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur. J. Pediatr. 2004; 163 (2): 67–75.
13. Temin P. A., Kazantseva L. Z. Nasledstvennye narusheniya nervno-psikhicheskogo razvitiya detei. Rukovodstvo dlya vrachei [Hereditary Disorders of Mental Development of Children. Guidelines]. Moscow, Meditsina, 2001. 432 p.
14. Krasnopol'skaya K. D. Nasledstvennye bolezni obmena veshchestv. Spravochnoe posobie dlya vrachei [Hereditary Metabolic Diseases. Guidline]. Moscow, Center for social adaptation and rehabilitation of children «Fokhat», 2005. 364 p.
15. Grabowski G. A., Hopkin R. J. Enzyme therapy for lysosomal storage disease: Principles, practice, and prospects. Annu. Rev. Genomics. Hum. Genet. 2003; 4: 403–436.
16. Weinreb N. J., Goldblatt J., Villalobos J., Charrow J., Cole J. A., Kerstenetzky M., vom Dahl S., Hollak C. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J. Inherit. Metab. Dis. 2012 Sep. 14 [Epub ahead of print].
Review
For citations:
Gundobina O.S., Komarova E.V., Namazova-Baranova L.S., Gevorkyan А.K., Movsisyan G.B. GAUCHER’S DISEASE. Pediatric pharmacology. 2013;10(6):72-75. (In Russ.) https://doi.org/10.15690/pf.v10i6.899
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