Paediatria Croatica, Vol. 64 No. 4, 2020.
Recenzija, Prikaz slučaja
https://doi.org/10.13112/PC.2020.41
Diagnostic, clinical and therapeutic challenges in patients with Duchenne muscular dystrophy – patient series reports
Radenka Kuzmanić Šamija
Marta Plejić
Sažetak
The aim of the study was to assess timely recognition of clinical characteristics and implementation of a multidisciplinary approach
according to the latest guidelines, and to analyse clinical course in patients on gene therapy. The research was designed as a crosssectional and retrospective study. Patients with dystrophinopathies and their contacts were singled out by retrospective analysis of
medical documentation. Data on current age, age at diagnosis, type of mutations, methods of confi rming the diagnosis, clinical
picture and therapy administered were extracted. Nine subjects were included in the study, eight with the diagnosis of Duchenne
muscular dystrophy (DMD) and one with the diagnosis of Becker muscular dystrophy (BDM). The age at diagnosis of DMD ranged
between two and six and a half years, while in the subject with BMD it was set at the age of eleven. Considering types of mutations,
four patients had deletions, three of them duplications and two of them point mutations. Six subjects were mobile independently,
while three subjects were dependent on wheelchair use. Pulmonary function was normal in seven subjects, while two developed
chronic pulmonary insuffi ciency and used non-invasive ventilation methods. Six subjects were on glucocorticoid therapy and all
were using defl azacort. In conclusion, patients with DMD, in addition to basic progressive muscle weakness, also develop complications of other organ systems, which requires multidisciplinary care. The advent of gene therapy as a causal therapy for DMD has
placed additional emphasis on diagnosing the disease as early as possible. This achieves an additional prolongation of life expectancy and increase in the quality of life in patients with DMD.
Ključne riječi
MUSCULAR DYSTROPHY, DUCHENNE; CHILDREN; GENETIC THERAPY; ATALUREN
Hrčak ID:
251944
URI
Datum izdavanja:
30.12.2020.
Posjeta: 2.917 *