Liu Ziqin, Lai Jianming, Song Fuying
Department of Endocrinology, Children's Hospital of Capital Institute of Pediatrics, Beijing, China.
Department of Rheumatology, Children's Hospital of Capital Institute of Pediatrics, Beijing, China.
Transl Pediatr. 2024 Jul 31;13(7):1161-1168. doi: 10.21037/tp-24-113. Epub 2024 Jul 16.
Noonan syndrome (NS) and Noonan-like syndrome with loose anagen hair (NS/LAH) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway. The aim of this retrospective study was to describe common and rare manifestations of NS and NS/LAH.
We collected and analyzed clinical and genetic data from 25 patients with NS and NS/LAH.
The patients' median age was 6.3 years (range, 1-13 years), and the male-to-female ratio was 18:7. In total, 19 patients had NS caused by a mutation in . Another causative gene was found in six patients, including two patients with a mutation, one patient with a KRAS mutation, one patient with an mutation, one patient with a mutation, and one patient with a PPP1CB mutation. Short stature was detected in 100% of the patients. This study provides an overview of the clinical features of NS, including unique facial features, short stature, congenital heart defects, and other manifestations. Notably, systemic lupus erythematosus (SLE) was found in two -positive patients. One patient had a posterior urethral valve, which is very rare in NS patients.
Our study identified several clinical features that were previously poorly related to NS, including SLE. We concluded that -related NS is associated with a particularly high risk of SLE, which may have a significant impact on quality of life, and a posterior urethral valve is a novel phenotype. These findings could be helpful in enhancing the understanding of the clinical spectrum of NS.
努南综合征（NS）和毛发松动型努南样综合征（NS/LAH）是神经发育综合征，由参与大鼠肉瘤/丝裂原活化蛋白激酶（RAS/MAPK）通路的基因种系突变引起。这项回顾性研究的目的是描述NS和NS/LAH的常见和罕见表现。
我们收集并分析了25例NS和NS/LAH患者的临床和基因数据。
患者的中位年龄为6.3岁（范围1至13岁），男女比例为18:7。共有19例患者的NS由[具体基因]突变引起。在6例患者中发现了另一个致病基因，包括2例[具体基因]突变患者、1例KRAS突变患者、1例[具体基因]突变患者、1例[具体基因]突变患者和1例PPP1CB突变患者。100%的患者检测到身材矮小。本研究概述了NS的临床特征，包括独特的面部特征、身材矮小、先天性心脏缺陷和其他表现。值得注意的是，在2例[相关基因]阳性患者中发现了系统性红斑狼疮（SLE）。1例患者有后尿道瓣膜，这在NS患者中非常罕见。
我们的研究确定了一些以前与NS关系不大的临床特征，包括SLE。我们得出结论，与[相关基因]相关的NS与SLE的特别高风险相关，这可能对生活质量有重大影响，而后尿道瓣膜是一种新的表型。这些发现可能有助于增强对NS临床谱的理解。
