ISSUES OF DIAGNOSIS AND TREATMENT OF ORPHAN DISEASES. CLINICAL CASE OF LATE-ONSET GLYCOGENOSIS TYPE II IN AN ADULT
Abstract
The aim of the study is to present management analysis of a patient with Pompe disease belonging to the group of orphan diseases in order to improve its diagnostics, treatment, quality of patient life and reduce the level of mortality from the pathology.
Materials and methods. The clinical case of glycogen storage disease type II (Pompe disease) with a late-onset in an adult is presented. The results of medical genetic counseling are quoted, as well as the problem of providing drug treatment to patients with orphan diseases is discussed.
Results. The disease symptoms as slowly increasing muscular weakness primarily in paraspinal, pelvic and shoulder girdle muscles are presented. The difficulty of establishing a diagnosis of Pompe disease by primary care physicians is the rarity of glycogen storage disease type II. The characteristics of the discase are the absence of myographic signs of lower limb muscles damage and the prevalence of paraspinal muscles involvement confirmed by needle electromyography
About the Authors
L. P. Smertina
Surgut State University
Russian Federation
Russian Federation
L. N. Kolbasin
Surgut District Cardiologic Dispensary
Russian Federation
Russian Federation
References
1. Новиков П. В. Проблема редких (орфанных) заболеваний в Российской Федерации: медицинские и нормативно-правовые аспекты ее решения // Терапевт. архив. 2014. Вып. 2. С. 3–12.
2. Orphanet : The portal for rare diseases and orphan drugs. URL: https:// www.orpha.net (дата обращения: 19.10.2018).
3. Куцев С. И. Путь пациента с редким диагнозом: нормативные документы и организация лечебно-диагностического процесса при орфанном заболевании в Российской Федерации // Нервно-мышеч. болезни. 2017. № 7 (4). С. 61–63.
4. Pompe J. C. Over Idiopatische Hypertrophie van het hart // Ned Tijdshr Geneeskd. 1932. Vol. 76. P. 304–325.
5. Hers H. G. Alpha-glucosidase Deficiency in Generalized Glycogen Storage Disease (Pompe’s disease) // Biochem J. 1963. Vol. 86. P. 11–17.
6. American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease // Muscle Nerve. 2009. Vol. 40. P. 149–209.
7. Bembi B., Cerini E., Danesino C., Donatti M. A., Gasperini S., Morando L. et al. Diagnosis of Glycogenosis Type II // Neurology. 2008. Vol. 71 (Suppl. 2). P. 4–11.
8. Kishnani P. S., Steiner R. D., Bali D., Berger K., Byrne B. J., Case L. E et al. Pompe Disease Diagnosis and Management Guideline // Genet Med. 2006. Vol. 8. P. 267–355.
9. Winkel L. P., Hagemans M. L., Van Doorn P. A., Loonen M. C., Hop W. J., Reuser A. J. et al. The Natural Course of Non-Classic Pompe’s Disease; a Review of 225 Published Cases // J Neurol. 2005. Vol. 252. P. 875–959.
10. Kroos M. A., Pomponio R. J., Hagemans M. L., Keulemans J. L., Phipps M., DeRiso M. et al. Broad Spectrum of Pompe Disease in Patients with the Same c.-32-13T- > G Haplotype // Neurology. 2007. Vol. 68. P. 110–115.
11. Aston Health : сайт. URL: https://aston-health.com/ (дата обращения: 12.10.2018).
12. Савостьянов К. В., Никитин С. С., Карпачева К. Е. Лабораторные исследования и болезнь Помпе: от подозрения до мониторинга терапии // Нервно-мышеч. болезни. 2016. № 6 (1). С. 54–62.
13. Лаборатория наследственных болезней обмена веществ : сайт. URL: http://labnbo.ru/ (дата обращения: 12.10.2018).
Review
For citations:
Smertina L.P., Kolbasin L.N. ISSUES OF DIAGNOSIS AND TREATMENT OF ORPHAN DISEASES. CLINICAL CASE OF LATE-ONSET GLYCOGENOSIS TYPE II IN AN ADULT. Vestnik SurGU. Meditsina. 2019;(1 (39)):34-38. (In Russ.)
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