Liu Jinrong, Peng Yun, Zhou Nan, Liu Xiaorong, Meng Qun, Xu Hui, Zhao Shunying
Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical University, Nanlishi Road 56, Xicheng District, Beijing, People's Republic of China.
Imaging Center, Beijing Children's Hospital, Capital Medical University, Nanlishi Road 56, Xicheng District, Beijing, People's Republic of China.
Orphanet J Rare Dis. 2017 Mar 21;12(1):58. doi: 10.1186/s13023-017-0610-8.
Combined methylmalonic acidemia (MMA) and homocysteinemia are a group of autosomal recessive disorders caused by inborn errors of cobalamin metabolism, including CblC, D, F, and J, with cblC being the most common subtype. The clinical manifestations of combined MMA and homocysteinemia vary, but typically include neurologic, developmental and hematologic abnormalities.We report 4 children with combined MMA and homocysteinemia who presented predominantly with late-onset diffuse lung diseases (DLD). Of these, 3 accompanied by pulmonary arterial hypertension (PAH), 1 accompanied by hypertension, and 2 accompanied by renal thrombotic microangiopathy (TMA), which was confirmed by renal biopsy. This confirms combined MMA and homocysteinemia should be considered in the differential diagnosis of DLD with or without PAH or renal TMA.
甲基丙二酸血症（MMA）合并高同型半胱氨酸血症是一组由钴胺素代谢先天性缺陷引起的常染色体隐性疾病，包括CblC、D、F和J型，其中cblC型最为常见。MMA合并高同型半胱氨酸血症的临床表现各异，但通常包括神经、发育和血液学异常。我们报告了4例以迟发性弥漫性肺疾病（DLD）为主的MMA合并高同型半胱氨酸血症患儿。其中，3例伴有肺动脉高压（PAH），1例伴有高血压，2例伴有肾血栓性微血管病（TMA），经肾活检确诊。这证实了在鉴别诊断伴或不伴PAH或肾TMA的DLD时应考虑MMA合并高同型半胱氨酸血症。
