【摘要】：為總結(jié)先天性無(wú)痛無(wú)汗癥(CIPA)的臨床特點(diǎn),提高對(duì)該病的認(rèn)識(shí),回顧分析1例CIPA患兒臨床資料并檢索相關(guān)文獻(xiàn)。共46例患兒,男女比例約為2∶1,發(fā)病日齡(14±6)天,死亡4例,感覺(jué)障礙43例,發(fā)熱38例,無(wú)汗38例,皮膚干燥29例,外傷及感染18例,智力障礙24例,自殘16例,骨折及關(guān)節(jié)病變19例,視神經(jīng)萎縮5例,抽搐4例,手術(shù)15例。CIPA新生兒期少見(jiàn),主要表現(xiàn)為發(fā)熱、無(wú)汗、無(wú)痛,生化指標(biāo)基本正常,皮膚活檢不能診斷,需行基因檢測(cè)明確。目前無(wú)特殊治療且預(yù)后不良,重在預(yù)防,避免近親結(jié)婚,可行CIPA致病基因篩查。
[Abstract]:In order to summarize the clinical features of congenital painless and sweat-free (CIPA) and to improve the understanding of this disease, the clinical data of 1 case of CIPA were retrospectively analyzed and the related literatures were searched. The age of onset was (14 鹵6) days. There were 4 cases of death, 43 cases of sensory disorder, 38 cases of fever, 38 cases of non-sweating, 29 cases of dry skin, 18 cases of trauma and infection, 24 cases of mental retardation and 16 cases of self-handicap. There were 19 cases of fracture and arthropathy, 5 cases of optic atrophy, 4 cases of convulsions and 15 cases of operation. CIPA was rare in neonatal period, mainly manifested as fever, no sweat, no pain, basically normal biochemical indexes, and could not be diagnosed by skin biopsy. At present, there is no special treatment and poor prognosis. It is important to prevent and avoid marriage of close relatives. It is feasible to screen the pathogenic gene of CIPA.
【作者單位】： 湖南省兒童醫(yī)院新生兒科;
【分類號(hào)】：R722.1

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