中国实用儿科杂志

中国实用儿科杂志 ›› 2010, Vol. 25 ›› Issue (11): 874-.

• 论著 • 上一篇    下一篇

生物素缺乏症18例临床研究

王红梅，吴沪生   

  1. 首都医科大学附属北京儿童医院，北京　100045
  • 收稿日期:2010-09-11 修回日期:2010-10-11 出版日期:2010-11-06 发布日期:2010-11-05

Diagnosis and treatment of biotin deficiency：clinical study of 18 patients.

  1. Department of Neurology，Beijing Children’s Hospital，Capital Medical University，Beijing 100056，China
  • Received:2010-09-11 Revised:2010-10-11 Online:2010-11-06 Published:2010-11-05

摘要：

目的　探讨生物素缺乏症的临床特征、诊断与治疗。方法　对2007年3月至2009年12月首都医科大学附属北京儿童医院门诊疑似生物素缺乏症患儿进行生物素（免疫法）和生物素酶（化学发光法）检测，确诊18例。对其进行临床资料分析及随访。结果　（1）临床表现：16例患儿发生皮肤湿疹样皮疹和（或）皮肤干粗。9例头发异常。13例有不同程度的精神发育迟滞。6例抽搐。4例反复呼吸道感染。2例听力障碍。（2）共患病：注意缺陷多动障碍（ADHD）2例。先天性眼发育异常、甲状腺功能低下、抽动障碍各1例。（3）实验室检查：血生物素均 < 100 ng/L，生物素酶均正常。15例尿有机酸分析，2例提示甲基丙二酸血症。13例智力测查Gesell评分中9例29～81分。部分患儿有头颅影像学非特异性异常（7/13）、脑电图异常（6/13）及听力异常（2/5）。（4）治疗与随访：确诊后给予生物素10～40 mg/d治疗，患儿精神状态、食欲、皮肤毛发异常均明显改善。结论　生物素缺乏症临床表现多样，皮肤和（或）毛发异常是诊断本病的重要线索和特征。生物素治疗效果显著。生物素缺乏症可与其他疾病共患，需加强对该病的认识以早期诊断和治疗。

关键词: 生物素缺乏症, 生物素酶, 湿疹

Abstract:

Objective　To investigate the clinical manifestation，diagnosis，and treatment of biotin deficiency. Methods　Eighteen patients with biotin deficiency were confirmed by biotin assay with immunologic method and biotinidase assay with chemoluminescence. Their clinical features，laboratory findings，and treatment regimen were reviewed. The response to the treatment of biotin was followed up. Results　（1） There were variant clinical manifestations. Among 18 cases，16 had eczematous skin rash and/or pachylosis，9 had hair abnormality，13 had mental retardation，5 had seizures，4 had frequent respiratory infection，and 2 with dysaudia. （2） Some cases had comorbidities： 2 with congenital dysplasia of eye，1 with thyroid hypofunction，and 1 with tic disorder. （3） Laboratory investigations showed biotin was from < 10 to 98 ng/L，biotinidase was normal；urinary organic acid analysis with gas chromatography/mass spectrometry （GC/MS） among 15 cases showed no evidence about multiple carboxylase deficiency. Gesell Test Score was from 29 to 81 in 9 cases，normal in 4 cases. Some cases had nonspecific abnormal image in the brain，abnormal electroencephalogram，and dysaudi，etc. （4） All patients were supplemented with biotine individually （10～40 mg/d）. Mental state，appetite，dermatological and hair manifestations of this group were remarkable improved. Conclusion　The clinical manifestations of biotin deficiency are complicated. Dermatological and/or hair manifestations are the main features and diagnostic clue. There is remarkable response to the biotin treatment. It is important to improve the knowledge of comorbidity. Early diagnosis and biotin supplementation can contribute significantly to the improvement of prognosis.

Key words: biotin deficiency, biotinidase, eczema