Infantile Pompe disease: Clinical picture, diagnosis, and treatment
Pompe disease is a rare inherited disease that belongs to lysosomal accumulation diseases and can be considered as cardiac glycogenosistype II, as well as a severe neuromuscular disease or metabolic myopathy. Physicians of different specialties very rarely identify this pathology, which is due to bo...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
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ABV-press
2015-02-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/101 |
| _version_ | 1826558077251354624 |
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| author | N. P. Kotlukova S. V. Mikhailova T. M. Bukina E. Yu. Zakharova |
| author_facet | N. P. Kotlukova S. V. Mikhailova T. M. Bukina E. Yu. Zakharova |
| author_sort | N. P. Kotlukova |
| collection | DOAJ |
| description | Pompe disease is a rare inherited disease that belongs to lysosomal accumulation diseases and can be considered as cardiac glycogenosistype II, as well as a severe neuromuscular disease or metabolic myopathy. Physicians of different specialties very rarely identify this pathology, which is due to both its rarity and clinical and genetic polymorphism. Infantile Pompe disease is the severest form. It is characterized by a progressive pattern and a fatal outcome during the first year of life. The possibility of performing enzyme replacement therapy for this disease, which can improve the prognosis and quality of life of patients, makes the early diagnosis of Pompe disease urgent. The paper describes the clinical presentation of infantile Pompe disease and current methods for its diagnosis and treatment. The authors give their experience in diagnosing and treating infantile Pompe disease, by demonstrating 3 cases of the disease. The characteristics of each infant, which confirm the clinical and genetic variety of this pathology, are discussed. |
| first_indexed | 2024-03-12T04:56:25Z |
| format | Article |
| id | doaj.art-1e0ddf8e31674f389330590e91d7cfef |
| institution | Directory Open Access Journal |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| last_indexed | 2025-03-14T08:38:45Z |
| publishDate | 2015-02-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj.art-1e0ddf8e31674f389330590e91d7cfef2025-03-02T12:54:42ZrusABV-pressНервно-мышечные болезни2222-87212413-04432015-02-0104667310.17650/2222-8721-2012-0-4-66-7395Infantile Pompe disease: Clinical picture, diagnosis, and treatmentN. P. Kotlukova0S. V. Mikhailova1T. M. Bukina2E. Yu. Zakharova3N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaRussian Children’s Clinical Hospital, Ministry of Health of RussiaMedical Genetics Research Center, Russian Academy of Medical Sciences, MoscowMedical Genetics Research Center, Russian Academy of Medical Sciences, MoscowPompe disease is a rare inherited disease that belongs to lysosomal accumulation diseases and can be considered as cardiac glycogenosistype II, as well as a severe neuromuscular disease or metabolic myopathy. Physicians of different specialties very rarely identify this pathology, which is due to both its rarity and clinical and genetic polymorphism. Infantile Pompe disease is the severest form. It is characterized by a progressive pattern and a fatal outcome during the first year of life. The possibility of performing enzyme replacement therapy for this disease, which can improve the prognosis and quality of life of patients, makes the early diagnosis of Pompe disease urgent. The paper describes the clinical presentation of infantile Pompe disease and current methods for its diagnosis and treatment. The authors give their experience in diagnosing and treating infantile Pompe disease, by demonstrating 3 cases of the disease. The characteristics of each infant, which confirm the clinical and genetic variety of this pathology, are discussed.https://nmb.abvpress.ru/jour/article/view/101pompe diseaseinfantile formenzyme activitymutationsenzyme replacement therapy |
| spellingShingle | N. P. Kotlukova S. V. Mikhailova T. M. Bukina E. Yu. Zakharova Infantile Pompe disease: Clinical picture, diagnosis, and treatment Нервно-мышечные болезни pompe disease infantile form enzyme activity mutations enzyme replacement therapy |
| title | Infantile Pompe disease: Clinical picture, diagnosis, and treatment |
| title_full | Infantile Pompe disease: Clinical picture, diagnosis, and treatment |
| title_fullStr | Infantile Pompe disease: Clinical picture, diagnosis, and treatment |
| title_full_unstemmed | Infantile Pompe disease: Clinical picture, diagnosis, and treatment |
| title_short | Infantile Pompe disease: Clinical picture, diagnosis, and treatment |
| title_sort | infantile pompe disease clinical picture diagnosis and treatment |
| topic | pompe disease infantile form enzyme activity mutations enzyme replacement therapy |
| url | https://nmb.abvpress.ru/jour/article/view/101 |
| work_keys_str_mv | AT npkotlukova infantilepompediseaseclinicalpicturediagnosisandtreatment AT svmikhailova infantilepompediseaseclinicalpicturediagnosisandtreatment AT tmbukina infantilepompediseaseclinicalpicturediagnosisandtreatment AT eyuzakharova infantilepompediseaseclinicalpicturediagnosisandtreatment |