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Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients

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收录情况： ◇ SCIE

作者：

机构： [1]Capital Med Univ, Beijing Childrens Hosp, Dept Resp Med, Nanlishi Rd 56, Beijing, Peoples R China; [2]Capital Med Univ, Beijing Childrens Hosp, Imaging Ctr, Nanlishi Rd 56, Beijing, Peoples R China; [3]Capital Med Univ, Beijing Childrens Hosp, Dept Nephrol, Nanlishi Rd 56, Beijing, Peoples R China

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关键词： Methylmalonic acidemia Homocysteinemia Homocystinuria Diffuse Lung disease Hypertension arterial pulmonary Children

摘要：

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.

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出版当年[2016]版：

大类 | 2 区医学

小类 | 3 区遗传学 3 区医学：研究与实验

最新[2023]版：

大类 | 2 区

医学

小类 | 2 区遗传学 2 区医学：研究与实验

JCR分区：

出版当年[2015]版：

Q2 MEDICINE, RESEARCH & EXPERIMENTAL Q2 GENETICS & HEREDITY

最新[2023]版：

Q2 GENETICS & HEREDITY Q2 MEDICINE, RESEARCH & EXPERIMENTAL

影响因子： 3.4 最新[2023版] 3.9 最新五年平均 3.29 出版当年[2015版] 4.129 出版当年五年平均 3.358 出版前一年[2014版] 3.478 出版后一年[2016版]

第一作者：

第一作者机构： [1]Capital Med Univ, Beijing Childrens Hosp, Dept Resp Med, Nanlishi Rd 56, Beijing, Peoples R China;

通讯作者：

通讯机构： [1]Capital Med Univ, Beijing Childrens Hosp, Dept Resp Med, Nanlishi Rd 56, Beijing, Peoples R China;

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