キシ タカユキ   KISHI Takayuki
  岸 崇之
   所属   医学部 医学科(東京女子医科大学病院)
   職種   特任准教授
論文種別 症例報告
言語種別 英語
査読の有無 査読なし
表題 Systemic lupus erythematosus associated with RASopathy
掲載誌名 正式名:Modern Rheumatology Case Reports
ISSNコード:24725625
掲載区分国外
出版社 Taylor & Francis
巻・号・頁 1(2),94-98頁
著者・共著者 HANAYA Aki, MIYAMAE Takako, KISHI Takayuki†, SAHARA Masumi, TANI Yumi, YAMANAKA Hisashi, NAGATA Satoru
発行年月 2017/07
概要 We report a 13-year-old Japanese boy with RASopathy (Noonan syndrome and Noonan-related syndromes) complicated by systemic lupus erythematosus (SLE). The diagnosis of RASopathy was made on the basis of stature and mental retardation, characteristic facial dysmorphia and sparse, thin hair. A heterozygous mutation in SHOC2 had been identified at the age of 9. He was evaluated by our institution for a chief complaint of fever and abdominal pain. He was found to have an enlarged cardiac silhouette (cardiothoracic ratio 77.8%) and extensive pericardial fluid, suggesting the presence of cardiac tamponade due to pericarditis. The patient met the diagnostic criteria for pediatric systemic lupus erythematosus (pSLE) (Japan Ministry of Health, Labour and Welfare, 1986); pericarditis, positive antinuclear antibody, immunological disorder (anti-ds DNA, anti-Sm, anti-U1 RNP), and hypocomplementemia. Other SLE features, such as rash, arthritis, renal involvement, and hematological disorders, were not observed. After an initial methylprednisolone burst, he was treated with 30 mg/day of prednisolone (PSL) and cyclosporine for four weeks, after which the dose of PSL was gradually decreased. The clinical manifestations subsided and antinuclear antibody, anti-dsDNA, and anti-U1 RNP reverted to negative, although hypocomplementemia and antiphospholipid antibodies remained present over the next 20 months of observation. RASopathy is a rare syndrome, and is often complicated by autoimmune disorders such as SLE. In this case, pericarditis was the sole clinical manifestation of pSLE. The clinical features of SLE associated with RASopathy are different from typical childhood-onset SLE.
DOI http://dx.doi.org/10.1080/24725625.2017.1337310