庞贝病儿童和成人的疾病严重程度与年龄和病程的关系。

Disease severity in children and adults with Pompe disease related to age and disease duration.

作者信息

Hagemans M L C, Winkel L P F, Hop W C J, Reuser A J J, Van Doorn P A, Van der Ploeg A T

机构信息

Division of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus MC-Sophia, Rotterdam, The Netherlands.

出版信息

Neurology. 2005 Jun 28;64(12):2139-41. doi: 10.1212/01.WNL.0000165979.46537.56.

DOI:10.1212/01.WNL.0000165979.46537.56

PMID:15985590

Abstract

Information about 255 children and adults with Pompe disease was gathered through a questionnaire. Disease severity was associated with disease duration and not with age; an early manifestation of the disease implied earlier wheelchair or ventilator dependency. The patient group under age 15 included a subgroup with a more severe and rapid course of the disease. They require more intensive follow-up and early intervention, before irreversible damage has occurred.

摘要

通过问卷调查收集了255名庞贝氏病儿童和成人的信息。疾病严重程度与病程相关，而非年龄；疾病的早期表现意味着更早需要轮椅或呼吸机辅助。15岁以下的患者组中包括一个疾病进程更严重、更快速的亚组。在不可逆转的损害发生之前，他们需要更密切的随访和早期干预。