Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease
Introduction. Pompe disease, a severe metabolic myopathy, is caused by mutations in the gene coding for acid alpha-glucosidase (GAA), what lead to intralysosomal accumulation of glycogen in all tissues, most notably in skeletal muscles. Pompe disease was the first documented lysosomal storage diseas...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Państwowa Akademia Nauk Stosowanych we Włocławku
2019-06-01
|
| Series: | Pielęgniarstwo Neurologiczne i Neurochirurgiczne |
| Subjects: | |
| Online Access: | https://apcz.umk.pl/PNIN/article/view/38040 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1846128716128714752 |
|---|---|
| author | Anna Roszmann Mikołaj Hamerski Marcelina Skrzypek-Czerko |
| author_facet | Anna Roszmann Mikołaj Hamerski Marcelina Skrzypek-Czerko |
| author_sort | Anna Roszmann |
| collection | DOAJ |
| description | Introduction. Pompe disease, a severe metabolic myopathy, is caused by mutations in the gene coding for acid alpha-glucosidase (GAA), what lead to intralysosomal accumulation of glycogen in all tissues, most notably in skeletal muscles. Pompe disease was the first documented lysosomal storage disease, nowadays we know around 60 similar disorders.
Aim. Presentation of the clinical picture of a man with Pompe’s disease.
Case Report. A man at the age of 40, diagnosis of the Pompe’s disease was made only at the age of 31. The first symptoms, indicating the patient’s development of the disease, were already present in the early school age. At first, the clinical picture presented by the patient led to the diagnosis of muscular dystrophy.
Discussion. Pompe disease presents as a continuum of clinical phenotypes that differ by age of onset, severity, and organ involvement. Pompe disease affects people of all ages with varying degrees of severity. Two main broad types are recognized based on the onset of symptoms and the presence or absence of cardiomyopathy. Infantile onset Pompe disease (IOPD) as one, and the most severe for mod the disease. Other and less destructive is late-onset Pompe disease (LOPD) manifests any time after 12 months of age. The disease can be successfully treated by enzyme replacement therapy with alglucosidase alfa that was approved for human use in 2006.
Conclusions. In big importance is nurses role as educators and support for the patients during their hospitalizations for medicine infusions twice a month. It time when the knowledge and significance of proper life style can be discussed and implemented to empower the patients. (JNNN 2019;8(4):170–176) |
| format | Article |
| id | doaj-art-dd62d2ec7c1046fdbb7ba1e979ceab28 |
| institution | Kabale University |
| issn | 2084-8021 2299-0321 |
| language | English |
| publishDate | 2019-06-01 |
| publisher | Państwowa Akademia Nauk Stosowanych we Włocławku |
| record_format | Article |
| series | Pielęgniarstwo Neurologiczne i Neurochirurgiczne |
| spelling | doaj-art-dd62d2ec7c1046fdbb7ba1e979ceab282024-12-10T23:56:35ZengPaństwowa Akademia Nauk Stosowanych we WłocławkuPielęgniarstwo Neurologiczne i Neurochirurgiczne2084-80212299-03212019-06-018417017610.15225/PNN.2019.8.4.533636Rare Diseases in Neurology — Caring for a Patient with Pompe’s DiseaseAnna Roszmann0Mikołaj Hamerski1Marcelina Skrzypek-Czerko2Department of Neurological — Psychiatric Nursing, Medical University of Gdańsk, Poland Ward of Neurology, Copernicus Medical Entity in Gdańsk, PolandClinic of Cardiac Surgery and Vascular Surgery — Intensive Postoperative Surveillance Department, University Clinical Center in Gdańsk, PolandDepartment of Neurological — Psychiatric Nursing, Medical University of Gdańsk, Poland Department and Clinic of Neurology, Medical University of Gdańsk, PolandIntroduction. Pompe disease, a severe metabolic myopathy, is caused by mutations in the gene coding for acid alpha-glucosidase (GAA), what lead to intralysosomal accumulation of glycogen in all tissues, most notably in skeletal muscles. Pompe disease was the first documented lysosomal storage disease, nowadays we know around 60 similar disorders. Aim. Presentation of the clinical picture of a man with Pompe’s disease. Case Report. A man at the age of 40, diagnosis of the Pompe’s disease was made only at the age of 31. The first symptoms, indicating the patient’s development of the disease, were already present in the early school age. At first, the clinical picture presented by the patient led to the diagnosis of muscular dystrophy. Discussion. Pompe disease presents as a continuum of clinical phenotypes that differ by age of onset, severity, and organ involvement. Pompe disease affects people of all ages with varying degrees of severity. Two main broad types are recognized based on the onset of symptoms and the presence or absence of cardiomyopathy. Infantile onset Pompe disease (IOPD) as one, and the most severe for mod the disease. Other and less destructive is late-onset Pompe disease (LOPD) manifests any time after 12 months of age. The disease can be successfully treated by enzyme replacement therapy with alglucosidase alfa that was approved for human use in 2006. Conclusions. In big importance is nurses role as educators and support for the patients during their hospitalizations for medicine infusions twice a month. It time when the knowledge and significance of proper life style can be discussed and implemented to empower the patients. (JNNN 2019;8(4):170–176)https://apcz.umk.pl/PNIN/article/view/38040pompe’s diseasetreatmentdiagnosiscare |
| spellingShingle | Anna Roszmann Mikołaj Hamerski Marcelina Skrzypek-Czerko Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease Pielęgniarstwo Neurologiczne i Neurochirurgiczne pompe’s disease treatment diagnosis care |
| title | Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease |
| title_full | Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease |
| title_fullStr | Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease |
| title_full_unstemmed | Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease |
| title_short | Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease |
| title_sort | rare diseases in neurology caring for a patient with pompe s disease |
| topic | pompe’s disease treatment diagnosis care |
| url | https://apcz.umk.pl/PNIN/article/view/38040 |
| work_keys_str_mv | AT annaroszmann rarediseasesinneurologycaringforapatientwithpompesdisease AT mikołajhamerski rarediseasesinneurologycaringforapatientwithpompesdisease AT marcelinaskrzypekczerko rarediseasesinneurologycaringforapatientwithpompesdisease |