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一名台湾男孩补体第七成分缺乏症

Deficiency of the seventh component of complement in a Taiwanese boy.

作者信息

Chiang Yi-Chi, Shyur Shyh-Dar, Huang Li-Hsin, Wen Ta-Chzng, Lin Mao-Tsair, Yang Hwai-Chih, Liang Pei-Hsuan

机构信息

Department of Pediatrics, Mackay Memorial Hospital, and Department of Pediatrics, Ho-Ping Branch, Taipei City Hospital, Taipei, Taiwan.

出版信息

J Formos Med Assoc. 2006 Sep;105(9):770-4. doi: 10.1016/S0929-6646(09)60207-2.

Abstract

Inherited complement deficiencies are rare, particularly those associated with late components of the complement cascade. We report a 5-year-4-month-old Taiwanese boy with systemic meningococcal infection who had undetectable CH50 level of < 6 U/mL (normal, 32.6-39.8 U/mL). Levels of C3, C4, C5, C6 and C8 were normal, but C7 was undetectable (< 5.8 mg/dL; reference, 55-85 mg/dL). The patient's sister was also C7-deficient (CH50 < 6 U/mL, C7 < 5.8 mg/dL). His father's CH50 was 25.9 U/mL and C7 was 27.8 mg/dL. His mother's CH50 was 31.2 U/mL and C7 was 22.7 mg/dL. His parents thus both had a partial complement deficiency, indicating an autosomal codominant inheritance pattern. Awareness of the possibility of late complement deficiency is important as they comprise a small percentage of patients who present with disseminated meningococcal disease or other serious infections caused by encapsulated organisms.

摘要

遗传性补体缺陷较为罕见,尤其是那些与补体级联反应后期成分相关的缺陷。我们报告了一名5岁4个月大的台湾男孩,患有全身性脑膜炎球菌感染,其CH50水平检测不到,< 6 U/mL(正常范围为32.6 - 39.8 U/mL)。C3、C4、C5、C6和C8水平正常,但C7检测不到(< 5.8 mg/dL;参考范围为55 - 85 mg/dL)。该患者的妹妹也存在C7缺陷(CH50 < 6 U/mL,C7 < 5.8 mg/dL)。他父亲的CH50为25.9 U/mL,C7为27.8 mg/dL。他母亲的CH50为31.2 U/mL,C7为22.7 mg/dL。因此,他的父母均存在部分补体缺陷,提示为常染色体共显性遗传模式。认识到后期补体缺陷的可能性很重要,因为在患有播散性脑膜炎球菌病或由包膜菌引起的其他严重感染的患者中,他们占比很小。

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