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目的探讨17β羟基类固醇脱氢酶10(HSD10)缺乏症的临床特征并文献复习。方法对北京大学第一医院儿科诊治的1例HSD10缺乏症患儿临床资料进行分析,并复习已报道的24例患儿资料,总结HSD10缺乏症的临床表现、生化检查、尿有机酸和基因突变特点。结果患儿男,1岁4个月。患儿5个月时出现智力运动倒退,随后出现癫痫、眼震和呼吸衰竭。体格检查:头围43 cm,四肢肌力Ⅳ级、肌张力低,腱反射未引出,Chaddock征(+)。辅助检查:乳酸升高,8个月时尿代谢筛查未见异常,磁共振成像(MRI)提示双侧基底节、脑桥背部对称性异常信号,基因突变分析发现HSD17B10突变c.388C>T(p.R130C),母亲无此突变。同时,检索文献共24例HSD10缺乏症患儿,其中男22例、女2例,多于2岁前起病,临床表现为发育倒退、肌张力减低、癫痫发作等,呈进展性病程。23例行尿2甲基3羟基丁酸盐和甲基巴豆酰甘氨酸检测,结果明显升高;13例检测血乳酸升高。24例均有HSD17B10基因突变,其中c.388C>T(p.R130C)最常见。预后:6例死亡,6例存在严重神经功能异常,12例症状轻微。结论 HSD10缺乏症以男性发病为主,常在婴幼儿期起病,呈进行性神经退行性变,生化检查和MRI表现类似线粒体病,尿2甲基3羟基丁酸盐和甲基巴豆酰甘氨酸升高对诊断有重要提示作用,通过HSD17B10基因突变分析确诊。
Objective To investigate the clinical features and literature review of 17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency. Methods The clinical data of 1 case of HSD10 deficiency in pediatric diagnosis and treatment of Peking University First Hospital were analyzed. The data of 24 cases reported were reviewed. The clinical manifestations, biochemical tests, urine organic acids and gene mutations of HSD10 deficiency were summarized. Features. Results children male, 1 year old 4 months. Children with mental retardation 5 months later, followed by epilepsy, nystagmus and respiratory failure. Physical examination: head circumference 43 cm, Ⅳ muscle strength of limbs, low muscle tone, tendon reflex did not lead, Chaddock sign (+). Auxiliary examination: elevated lactate, urine metabolic screening at 8 months showed no abnormalities, magnetic resonance imaging (MRI) showed bilateral basal ganglia, anterior pontine symmetry abnormal signal gene mutation analysis found HSD17B10 mutation c.388C> T ( p.R130C), the mother did not have this mutation. At the same time, there were 24 cases of HSD10 deficiency in the retrieved literature, including 22 males and 2 females, which were more than 2 years old. The clinical manifestations were retrograde development, hypotension and seizures. 23 routine urinary 2 methyl 3 hydroxybutyrate and methyl crotonyl glycine test results were significantly increased; 13 cases of elevated blood lactate. All 24 cases had HSD17B10 gene mutation, of which c.388C> T (p.R130C) was the most common. Prognosis: 6 died, 6 had severe neurological abnormalities, and 12 had mild symptoms. Conclusions HSD10 deficiency is predominantly male and is often onset in infancy, with progressive neurodegeneration, biochemical tests and similar MRI findings of mitochondrial disease, urinary methyl 2 hydroxybutyrate and methyl crotonylglycine Elevated diagnosis of important tips, confirmed by HSD17B10 gene mutation analysis.