Isojima Tsuyoshi, Sakazume Satoru, Hasegawa Tomonobu, Ogata Tsutomu, Nakanishi Toshio, Nagai Toshiro, Yokoya Susumu
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya, Japan.
Pediatr Res. 2016 Apr;79(4):543-8. doi: 10.1038/pr.2015.254. Epub 2015 Dec 9.
Noonan syndrome (NS) is a clinically and genetically heterogeneous syndrome characterized by distinctive facial features, short stature, congenital heart diseases, and other comorbidities. NS-specific growth charts are essential for NS care, but currently no such charts are available for Asian populations.
We conducted a nationwide survey by collaborating with three academic societies in Japan. We obtained the data of 356 clinically diagnosed NS subjects from 20 hospitals. The Lambda-Mu-Sigma method was used for establishing growth charts.
A total of 308 subjects (males: 159 and females: 149) were analyzed after excluding 48 subjects because of missing auxological data (26 subjects), presence of complications affecting growth (5 subjects), and extreme longitudinal growth aberrations which lay more than three standard deviation scores from the mean in this population (17 subjects). Genetic analyses were performed in 150 patients (48.7%); 103 (68.7%) were reported to have some abnormalities in the known causative genes. Cardiovascular diseases were found in 256 patients (83.1%). The NS-specific height, weight, and BMI charts were constructed with 3,249 mixed longitudinal and cross-sectional measurements.
Growth standards for Japanese individuals with NS were established. These charts are expected to be used in various clinical settings.
努南综合征（NS）是一种临床和遗传异质性综合征，其特征为独特的面部特征、身材矮小、先天性心脏病及其他合并症。NS特异性生长图表对NS的治疗至关重要，但目前亚洲人群尚无此类图表。
我们与日本的三个学术团体合作开展了一项全国性调查。我们从20家医院获取了356例临床诊断为NS的受试者的数据。采用Lambda-Mu-Sigma方法建立生长图表。
排除48例受试者后，共对308例受试者（男性159例，女性149例）进行了分析，排除原因包括缺乏体格学数据（26例）、存在影响生长的并发症（5例）以及纵向生长异常极端，偏离该人群均值超过三个标准差分数（17例）。对150例患者（48.7%）进行了基因分析；其中103例（68.7%）报告在已知致病基因中有某些异常。256例患者（83.1%）发现患有心血管疾病。利用3249次混合纵向和横断面测量构建了NS特异性身高、体重和BMI图表。
建立了日本NS患者的生长标准。这些图表有望用于各种临床环境。
