一名患有肿瘤坏死因子受体相关周期性综合征的2岁日本女孩：日本确诊的最年幼先证者病例报告。
A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.
作者信息
Yasumura Junko, Wago Masakuni, Okada Satoshi, Nishikomori Ryuta, Takei Syuji, Kobayashi Masao
机构信息
a Department of Pediatrics , Hiroshima University Graduate School of Biomedical & Health Sciences , Hiroshima , Japan.
b Department of Pediatrics , Hiroshima City Asa Hospital , Hiroshima , Japan.
出版信息
Mod Rheumatol. 2016 Sep;26(5):798-801. doi: 10.3109/14397595.2014.924894. Epub 2014 Jun 20.
We report a 2-year-old girl with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) who is the youngest proband diagnosed in Japan. Recurrent fever had started at her 6 months of age, and she had the familial history of recurrent fever, suggesting underlying genetic disorder, in her father and grandfather. Careful clinical observation of characteristics of fever with disease course and the familial history of recurrent fever may lead to diagnosis of TRAPS in early infancy.
我们报告了一名患有肿瘤坏死因子受体相关周期性综合征（TRAPS）的2岁女孩，她是日本确诊的最年幼的先证者。反复发热始于她6个月大时，她的父亲和祖父有反复发热的家族史，提示存在潜在的遗传疾病。仔细临床观察发热特征与病程以及反复发热的家族史，可能有助于在婴儿早期诊断TRAPS。
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