Dados do Trabalho

Título

Clinical and laboratory profile in a cohort of Brazilian patiens with dystrophinopathies.

Introdução

Dystrophinopathies are muscle diseases caused by defects in the production of dystrophin, which almost exclusively affect boys. Deletions of one or more exons (65-70%), duplications (5- 10%) and point mutations or small genomic rearrangements (20%) are the causes of the complete or partial absence of dystrophin, leading to the most severe form known as dystrophin Duchenne Muscular Dystrophy (DMD) and the milder Becker Muscular Dystrophy (BMD), respectively.

Objetivo

Describe the clinical and laboratory changes in patients with dystrophinopathy; describe the types and frequency of mutations in the dystrophin gene; describe the demographic characteristics of the studied population; evaluate the relationship between different genetic abnormalities and their clinical outcomes.

Método

This is an observational retrospective study from a cohort of patients, with data collected in all Rede
SARAH hospitals, from June 26th, 1997, to December 31st, 2020. All collected data were plotted
into an Excel sheet (version 2010). Categorical variables were statistically evaluated by descriptive methods and were presented as frequencies, mean, median, variance and standard deviation (SD). Comparative analyses were performed using Analysis of Variances (ANOVA). All analyses were conducted with SPSS software (version 21.0. Armonk, NY, USA), and p values ≤ 0.05 were considered statically significant.

Resultados

1,161 individuals were initially selected, seven of which were excluded, totaling 1,154 participants from 519 different cities. It was possible to establish the clinical phenotype in 1,133 participants, of which 972 (85.8%) were classified as DMD, with a mean age of onset of symptoms of 3.8 years (n = 930; SD = 2 years) and the mean of the first total CK dosage of 11,402.9 U/L (n = 916; SD = 7,569.3 U/L) and 161 as DMB (14.2%) with a mean age of 10.1 years (n = 148; SD = 7.7 years) and the average first dosage of total CK was 4,999.1 U/L (n=151; SD = 4,917.8 U/L). Regarding genotype, 947 (82.0%) deletions, 160 (13.9%) duplications and 40 (3.6%) point mutations were found.

Conclusão

Clinical characteristics in the SARAH Network were similar to those found in the literature. The frequencies of the types of mutations in the dystrophin gene were different from the global and national literature with regard to point mutations. There was no statistical correlation between size and location of mutations and the clinical outcome of walking loss.

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Palavras Chave

Dystrophinopathy; duchenne; Becker;