Alvarez Karin, Suarez Bernardita, Palomino María Angélica, Hervias Cecilia, Calcagno Giancarlo, Martínez-Jalilie Maripaz, Lozano-Arango Andrés, Lillo Susana, Haro Mariana, Cortés Fanny, Pantoja Samuel, Chahin Andrés, Orellana Paulina, Bevilacqua Jorge A, Bertini Enrico, Castiglioni Claudia
Clínica Las Condes, Laboratorio de Biología Molecular y Oncología, Santiago, Chile.
Clínica Las Condes, Departamento de Neurología Pediátrica, Santiago, Chile.
Arq Neuropsiquiatr. 2019 Jul 29;77(7):470-477. doi: 10.1590/0004-282X20190073.
Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population.
We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery.
Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate.
在过去几年中，由于首个针对这种神经退行性疾病的鞘内治疗方法获得批准，脊髓性肌萎缩症（SMA）备受关注。拉丁美洲需要掌握SMA的人口统计学情况，及时进行诊断，并对患者遵循适当的护理标准建议。这些是指导卫生政策的关键步骤。这是一项对来自智利各地的SMA患者队列的描述性研究。我们分析了临床、运动功能和社会数据，以及营养、呼吸和骨骼状况的护理情况。我们还测量了该人群中的SMN2拷贝数。
我们招募了92名患者：50名男性；23例1型SMA、36例2型SMA和33例3型SMA。基因诊断时的中位年龄分别为5、24和132个月。我们评估了57名患者的SMN2拷贝数。1型SMA患者中69.6%进行了气管切开术并通过胃造口术进食，65%的2型SMA患者接受夜间无创通气，整个队列中有37%接受了脊柱侧弯手术。
1型SMA的通气护理仍主要基于气管切开术。这个智利的SMA患者队列能够及时获得基因诊断、通气辅助、营养支持和脊柱侧弯手术。在这个系列中，1型SMA的代表性不足，可能是由于早期诊断受限以及高死亡率和早期死亡率所致。
