Garver William S, Francis Gordon A, Jelinek David, Shepherd Glen, Flynn James, Castro Graciela, Walsh Vockley Cate, Coppock Donald L, Pettit Kathleen M, Heidenreich Randy A, Meaney F John
Department of Pediatrics, Arizona Health Sciences Center, The University of Arizona, Tucson, Arizona 85724-5073, and Children's Hospital of Pittsburgh, PA, USA.
Am J Med Genet A. 2007 Jun 1;143A(11):1204-11. doi: 10.1002/ajmg.a.31735.
Niemann-Pick type C1 (NPC1) disease is an autosomal recessive disorder characterized clinically by neonatal jaundice, hepatosplenomegaly, vertical gaze palsy, ataxia, dystonia, and progressive neurodegeneration. The present study provides basic clinical and health information from the National Niemann-Pick C1 disease database that was obtained using a clinical questionnaire of 83 questions mailed to families affected by NPC1 disease living in the United States. The study was conducted over a 1-year period, during which time parents/caregivers and physicians completed the clinical questionnaire. Sixty-four percent (87/136) of the questionnaires were returned, with 53% and 47% representing male and female NPC1 patients, respectively. The average age of diagnosis for NPC1 disease was 10.4 years, with one-half of patients being diagnosed before the age of 6.9 years. The average age of death for NPC1 disease was 16.2 years, with one-half of patients dying before the age of 12.5 years. A common clinical symptom reported at birth was neonatal jaundice (52%), followed by enlargement of the spleen (36%) and liver (31%); ascites (19%) and neonatal hypotonia (6%) were much less frequent. With respect to developmental difficulties, the most common findings included clumsiness (87%), learning difficulties (87%), ataxia (83%), dysphagia (80%), and vertical gaze palsy (81%). Together, these findings confirm and extend previous reports investigating the clinical features associated with NPC1 disease.
尼曼-匹克C1型（NPC1）病是一种常染色体隐性疾病，临床特征为新生儿黄疸、肝脾肿大、垂直凝视麻痹、共济失调、肌张力障碍和进行性神经退行性变。本研究提供了来自国家尼曼-匹克C1病数据库的基础临床和健康信息，该数据库是通过向居住在美国的受NPC1病影响的家庭邮寄一份包含83个问题的临床问卷获得的。该研究为期1年，在此期间，父母/照顾者和医生完成了临床问卷。64%（87/136）的问卷被收回，其中男性和女性NPC1患者分别占53%和47%。NPC1病的平均诊断年龄为10.4岁，一半的患者在6.9岁之前被诊断。NPC1病的平均死亡年龄为16.2岁，一半的患者在12.5岁之前死亡。出生时报告的常见临床症状是新生儿黄疸（52%），其次是脾脏肿大（36%）和肝脏肿大（31%）；腹水（19%）和新生儿肌张力减退（6%）则少得多。关于发育困难，最常见的表现包括笨拙（87%）、学习困难（87%）、共济失调（83%）、吞咽困难（80%）和垂直凝视麻痹（81%）。这些发现共同证实并扩展了之前关于NPC1病相关临床特征的研究报告。
