Noonan症候群（Noonan syndrome: NS）は，特徴的顔貌，心疾患，低身長を特徴とする常染色体顕性（優性）遺伝形式の先天性異常症候群で，1963年にJacqueline Noonan博士によって報告された．多彩な全身症状に対して，包括的な診療が必要となる．近年，NSと臨床的に類似点が多いCostello 症候群（Costello syndrome: CS），心臓・顔・皮膚（cardio-facio-cutaneous: CFC）症候群などが，遺伝子解析によりNSと共通のRAS/MAPK細胞内シグナル伝達系の分子の異常により発症することが解明され，これらの症候群を含むNSの類縁疾患がRAS/MAPK症候群または“RASopathies”と総称されるようになった．本稿では，小児循環器専門医が知っておくべきNoonan・RAS/MAPK症候群の基本知識を紹介する．
Noonan syndrome (NS), first described by Dr. Jacqueline Noonan in 1963, is an autosomal dominant congenital anomaly syndrome. It is characterized by unique facial features, heart disease, and short stature. Patients with NS require comprehensive medical treatment for a variety of systemic symptoms. Genetic analyses have recently revealed that Costello syndrome and cardiofaciocutaneous syndrome, which share many clinical similarities with NS, are caused by abnormalities in the RAS/MAPK intracellular signaling pathway. Collectively, these syndromes and other NS-associated disorders are now referred to as RAS/MAPK syndromes or RASopathies. This review provides basic knowledge on 25 NS-associated disorders and RAS/MAPK syndromes with which pediatric cardiologists should be familiar.
Key words: Costello syndrome; cardiofaciocutaneous syndrome; PTPN11; RAF1; heart disease
© 2024 特定非営利活動法人日本小児循環器学会© 2024 Japanese Society of Pediatric Cardiology and Cardiac Surgery
This page was created on 2024-12-03T11:18:38.226+09:00
This page was last modified on 2025-03-11T09:46:32.000+09:00
このサイトは（株）国際文献社によって運用されています。
