Navarro David, Azevedo Ana, Sequeira Sílvia, Ferreira Ana Carina, Carvalho Fernanda, Fidalgo Teresa, Vilarinho Laura, Santos Maria Céu, Calado Joaquim, Nolasco Fernando
Nephrology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Curry Cabral, Rua da Beneficência 8, 1069-166, Lisbon, Portugal.
Nephrology Department, Centro Hospitalar de Setúbal E.P.E., Hospital de São Bernardo, Setúbal, Portugal.
CEN Case Rep. 2018 May;7(1):73-76. doi: 10.1007/s13730-017-0298-6. Epub 2018 Jan 2.
Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency. To our knowledge, this is the first time that an adult-onset methylmalonic acidemia and homocystinuria presents as TMA preceding CNS involvement.
血栓性微血管病（TMA）综合征可能继发于多种不同疾病。大多数情况可通过系统方法识别，排除其他病因后，TMA通常归因于补体替代途径活性失调——非典型溶血性尿毒症综合征（aHUS）。我们报告了一例具有挑战性的病例，一名19岁女性表现为血栓性微血管病，结果发现是由甲基丙二酸血症和同型胱氨酸尿症引起的，这是一种罕见的维生素B12代谢缺陷。据我们所知，这是首次成人起病的甲基丙二酸血症和同型胱氨酸尿症在中枢神经系统受累之前表现为TMA。
