土耳其一家三级中心 1 型 SMA 患者的人口统计学特征。

Demographic characteristics of SMA type 1 patients at a tertiary center in Turkey.

机构信息

Department of Pediatric Neurology, Istanbul Medical Faculty, Ortaköy Dereboyu cad. Arkeon sitesi A 5 blok D 3, Beşiktaş, Fatih, Istanbul, Turkey.

出版信息

Eur J Pediatr. 2012 Mar;171(3):549-52. doi: 10.1007/s00431-011-1607-2. Epub 2011 Oct 21.

DOI:10.1007/s00431-011-1607-2

PMID:22016262

Abstract

UNLABELLED

The aim of this study was to demonstrate demographics of 39 consecutive Spinal Muscular Atrophy (SMA) type 1 patients diagnosed genetically in a tertiary center between June 2006 and June 2009. There was history of consanguineous marriage in 27 (69%) patients. The average patient lifespan was 251 days (30-726 days). The average patient age at diagnosis was 129 days (33-297 days). A statistically significant correlation was found between the age at diagnosis and the lifespan (p = 0.00). No significant correlation was found between the time spent in intensive care and the lifespan (p = 0.43). Routine physical therapy was found to have no significant impact on the lifespan average (p = 0.17). The cause of death in all of our patients was respiratory issues. Genetic counseling was given to 35 families. A second child with SMA was born in three out of the 14 families who declined prenatal diagnosis.

CONCLUSION

A national program is needed in Turkey for SMA prevention and creation of expert teams for the management of these patients.

摘要

目的

本研究旨在展示 2006 年 6 月至 2009 年 6 月期间在一家三级中心通过基因诊断的 39 例连续脊髓性肌萎缩症（SMA）1 型患者的人口统计学资料。27 例（69%）患者有近亲结婚史。平均患者生存期为 251 天（30-726 天）。平均患者诊断年龄为 129 天（33-297 天）。诊断年龄与生存期之间存在显著相关性（p=0.00）。在重症监护室的时间与生存期之间无显著相关性（p=0.43）。常规物理治疗对平均生存期无显著影响（p=0.17）。所有患者的死亡原因均为呼吸问题。对 35 个家庭进行了遗传咨询。在拒绝产前诊断的 14 个家庭中，有 3 个家庭的第二个孩子患有 SMA。