Diagnosis and management of Pompe disease
| Autor: | P.J. Du Toit, S Varughese, K Govendrageloo, L Mubaiwa, T Gerntholtz, L Bhengu, C Els, B D Henderson, Alan Davidson |
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| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: |
Patient Care Team
medicine.medical_specialty Pediatrics Neuromuscular disease business.industry Glycogen Storage Disease Type II MEDLINE alpha-Glucosidases General Medicine Disease medicine.disease South Africa Lysosomal storage disease medicine Physical therapy Organ involvement Team leader Glycogen storage disease Humans Age of onset business |
| Zdroj: | South African Medical Journal; Vol 104, No 4 (2014); 273-274 SAMJ: South African Medical Journal, Volume: 104, Issue: 4, Pages: 273-273, Published: APR 2014 |
| ISSN: | 2078-5135 0256-9574 |
| Popis: | Pompe disease (PD) is an autosomal-recessively inherited neuromuscular disease that, if not diagnosed and treated early, can be fatal. It can present from early infancy into adulthood. Due to the lack of acid alpha-glucosidase, there is progressive intracellular accumulation of glycogen. The severity of the disease is determined by age of onset, organ involvement including the degree of severity of muscle involvement, as well as rate of progression. PD is classified into two groups: infantile and late-onset, each having two subgroups. The need for two tests performed by separate methods (screening and confirmatory) is outlined. It is imperative to try to reduce the time to diagnosis and to recognise the possibilities of false-positive results. A multidisciplinary team approach to treatment of affected patients is optimum with, as team leader, a physician who has experience in managing this rare disorder. In this article, we present a brief overview of the disease and provide guidelines for diagnosis and management of this condition in South Africa. |
| Databáze: | OpenAIRE |
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