切换至 "中华医学电子期刊资源库"

中华肾病研究电子杂志 ›› 2026, Vol. 15 ›› Issue (05) : 293 -295. doi: 10.3877/cma.j.issn.2095-3216.2026.05.009

病例报告

晚发型甲基丙二酸血症合并高同型半胱氨酸血症相关肾局限性血栓性微血管病1例
杨琛, 孙景毅, 张岭, 暴宇, 李秀丽, 孙福云†()   
  1. 061000 沧州市中心医院肾内二科
  • 收稿日期:2025-08-09 出版日期:2026-10-28
  • 通信作者: 孙福云
  • 基金资助:
    沧州市科技计划(23244102119)

Renal-limited thrombotic microangiopathy associated with late-onset methylmalonic acidemia combined with hyperhomocysteinemia: a case report

Chen Yang, Jingyi Sun, Ling Zhang   

  • Received:2025-08-09 Published:2026-10-28
引用本文:

杨琛, 孙景毅, 张岭, 暴宇, 李秀丽, 孙福云. 晚发型甲基丙二酸血症合并高同型半胱氨酸血症相关肾局限性血栓性微血管病1例[J/OL]. 中华肾病研究电子杂志, 2026, 15(05): 293-295.

Chen Yang, Jingyi Sun, Ling Zhang. Renal-limited thrombotic microangiopathy associated with late-onset methylmalonic acidemia combined with hyperhomocysteinemia: a case report[J/OL]. Chinese Journal of Kidney Disease Investigation(Electronic Edition), 2026, 15(05): 293-295.

图1 肾活检病理检查结果注:A(六胺银染色×400)可见肾小球节段内皮细胞增生,内皮细胞肿胀,肾小球基底膜不规则增厚,内可见细胞成分(箭头指示);B(六胺银染色×200)可见肾小球缺血硬化,小动脉管壁增厚(箭头指示);C(电镜×5 000)示肾小球基底膜节段内疏松层增宽(箭头指示),毛细血管腔狭窄;D(电镜×6 000)可见肾小球基底膜内疏松层增宽(箭头指示)
[1]
非典型溶血尿毒综合征多学科共识协作组. 非典型溶血尿毒综合征多学科诊疗实践专家共识(2025版)[J]. 中华内科杂志,2025, 64(5): 396-411.
[2]
刘玉鹏,杨艳玲. 甲基丙二酸尿症cblC型合并同型半胱氨酸血症的临床与实验室研究进展[J]. 中华儿科杂志,2013, 51(4): 313-316.
[3]
包道日娜,杨宏宇,王素霞,等. cblC型甲基丙二酸尿症导致肾脏血栓性微血管病损伤1例[J]. 中国临床案例成果数据库,2022, 4(1): E7311.
[4]
Li QL, Song WQ, Peng XX, et al. Clinical characteristics of hemolytic uremic syndrome secondary to cobalamin C disorder in Chinese children [J]. World J Pediatr, 2015, 11: 276-280.
[5]
Topaloglu R, Inozu M, Gulhan B, et al. Do not miss rare and treatable cause of early-onset hemolytic uremic syndrome: cobalamin c deficiency [J]. Nephron, 2019, 142: 258-263.
[6]
Guigonis V, Fremeaux-Bacchi V, Giraudier S, et al. Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation [J]. Am J Kidney Dis, 2005, 45(3): 588-595.
[7]
刘喆,王文红,张碧丽. 表现为溶血尿毒综合征的cblC+cblD型甲基丙二酸血症1例[J]. 中华实用儿科临床杂志,2017, 32(8): 625-626.
[8]
李磊,夏艳洁,胡爽,等. cblC型甲基丙二酸血症家系的基因变异分析及产前诊断[J]. 中华医学遗传学杂志,2022, 39(10): 1058-1064.
[9]
Cornec-Le GE, Delmas Y, De Parscau L, et al. Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency [J]. Am J Kidney Dis, 2014, 63(1): 119-123.
[10]
李建国,黄建萍,肖慧捷,等. 甲基丙二酸尿症的肾脏损害五例报告[J]. 中华儿科杂志,2005, 43(11): 810-813.
[11]
赵玉英,焉传祝,亓法英,等. 晚发型钴胺素C缺陷病临床及分子遗传学特点分析[J]. 中华神经科杂志,2018, 51(11): 863-870.
[12]
Koenig JC, Rutsch F, Bockmeyer C, et al. Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency [J]. Pediatr Nephrol, 2015, 30(7): 1203-1206.
No related articles found!
阅读次数
全文


摘要


AI
小
编
AI小编
你好!我是《中华医学电子期刊资源库》AI小编,有什么可以帮您的吗?