一名儿童患非典型溶血性尿毒症综合征伴周围坏疽和高同型半胱氨酸血症。

Al-Ahmad Molham, Kharita Lubna, Wannous Hala

Faculty of Medicine, Damascus University, Damascus, Syria.

Department of Pediatric Nephrology, Damascus University, Children's Hospital, Damascus, Syria.

Oxf Med Case Reports. 2020 Jul 24;2020(7):omaa048. doi: 10.1093/omcr/omaa048. eCollection 2020 Jul.

Atypical hemolytic uremic syndrome (aHUS) is a rare, progressive, life-threating disease that frequently has a genetic component; it is usually caused by familial, sporadic or idiopathic reasons. We report a case of aHUS in a 21-month-old girl with coexisting of methylenetetrahydrofolate reductase mutations, homocysteinemia and thalassemia minor complicated by peripheral gangrene as extrarenal manifestation.

非典型溶血性尿毒症综合征（aHUS）是一种罕见的、进行性的、危及生命的疾病，通常具有遗传因素；它通常由家族性、散发性或特发性原因引起。我们报告一例21个月大女童患aHUS的病例，该患儿同时存在亚甲基四氢叶酸还原酶突变、高同型半胱氨酸血症和轻度地中海贫血，并伴有外周坏疽这一肾外表现。