Henoch-Schonlein purpura nephritis with cranial venous sinus thrombosis caused by hereditary antithrombin III deficiency: a case report and literature review

报道1例紫癜性肾炎合并遗传性抗凝血酶Ⅲ缺乏症致颅内静脉窦血栓形成病例，遗传性抗凝血酶Ⅲ缺乏症经基因检测确诊。全外显子测序发现患儿SERPINC1基因杂合无义突变（c.1171C>T；p.Arg391X；EX6）及HABP2基因杂合错义突变（c.1063T>C；p. Cys355Arg；EX9）。患儿及其母亲和舅舅均检测出SERPINC1基因杂合无义突变，患儿及其父亲则检测出HABP2基因杂合错义突变。