[信号转导和转录激活因子5B缺乏症：一种与免疫功能障碍相关的新型生长激素不敏感综合征]
[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].
作者信息
Scalco Renata C, Pugliese-Pires Patrícia N, Jorge Alexander A L
机构信息
Unidade de Endocrinologia Genética, LIM-25, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil
出版信息
Arq Bras Endocrinol Metabol. 2013 Jul;57(5):333-8. doi: 10.1590/s0004-27302013000500001.
A new presentation of growth hormone insensitivity (GHI) caused by homozygous mutations in STAT5B (signal transducer and activator of transcription 5B) gene has been characterized in the last years. Its particularity is the association with severe immune dysfunction, especially with lymphocytic interstitial pneumonitis. This may mislead physicians into considering short stature as secondary to chronic immunological disease and consequently into underdiagnosing this form of GHI. The objective of this review is to propagate current knowledge about this rare pathology, facilitating the diagnosis of patients with GHI due to STAT5B mutations in endocrinology and other specialties clinics.
近年来，已对由信号转导及转录激活因子5B（STAT5B）基因纯合突变引起的生长激素不敏感（GHI）的一种新表现进行了特征描述。其特殊性在于与严重免疫功能障碍相关，尤其是淋巴细胞性间质性肺炎。这可能会误导医生将身材矮小视为慢性免疫性疾病的继发表现，从而导致对这种形式的GHI诊断不足。本综述的目的是传播关于这种罕见疾病的现有知识，以便在内分泌科和其他专科门诊更便于诊断因STAT5B突变导致GHI的患者。
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