慢性肾炎伴甲基丙二酸血症致血栓性微血管病

doi:10.3969/j.issn.1006-298X.2023.06.019

肾脏病与透析肾移植杂志 ›› 2023, Vol. 32 ›› Issue (6): 595-599.DOI: 10.3969/j.issn.1006-298X.2023.06.019

• • 上一篇

慢性肾炎伴甲基丙二酸血症致血栓性微血管病

出版日期:2023-12-28 发布日期:2023-12-22

Thrombotic microangiopathy caused by chronic nephritis with methylmalonic acidemia#br#
#br#

Online:2023-12-28 Published:2023-12-22

摘要/Abstract

摘要： 12岁青少年女性,病程6年,肾脏损害表现为慢性肾炎综合征,期间确诊合并型甲基丙二酸血症(MMA),半年前停用药物治疗。本次入院肾穿刺活检提示血栓性微血管病(TMA),基因检测提示MMACHC基因复合杂合突变。补充钴胺素、叶酸、甜菜碱、左卡尼汀及福辛普利治疗,病情好转。MMA合并肾损伤病例少见,旨在提高临床医生对本病的认识。

关键词: 甲基丙二酸血症, 血栓性微血管病, 高同型半胱氨酸血症, MMACHC基因

Abstract: A 12-year-old adolescent female with chronic kidney disease for more than 6 years. During this period, she was diagnosed with methylmalonic acidemia with hyperhomocysteinemia. The patient discontinued drug therapy six months ago.Renal biopsy indicated thrombotic microangiopathy (TMA) and genetic testing revealed compound heterozygous mutations in the MMACHC gene. The patients condition improved after receiving treatment with cobalamin, folic acid, betaine, levocarnitine, and fosinopril. There are few cases of MMA with renal injury. The aim is to expanded clinicians understanding of this disease.

Key words: methylmalonic acidemia, thrombotic microangiopathy, hyperhomocysteinemia, MMACHC gene

焦晨峰, 范文静, 梁少姗, 吴晓梅, 姜玲, 杨柳, 张炯. 慢性肾炎伴甲基丙二酸血症致血栓性微血管病[J]. 肾脏病与透析肾移植杂志, 2023, 32(6): 595-599.

JIAO Chenfeng, FAN Wenjing, LIANG Shaoshan, WU Xiaomei, JIANG Ling, YANG Liu, ZHANG Jiong. Thrombotic microangiopathy caused by chronic nephritis with methylmalonic acidemia#br#

#br#

[J]. Chinese Journal of Nephrology, Dialysis & Transplantation, 2023, 32(6): 595-599.

[1]	孙豪杰, 王锁刚. 移植肾血栓性微血管病的发病机制和诊疗进展[J]. 肾脏病与透析肾移植杂志, 2023, 32(3): 286-290.
[2]	王杨, 周玉超, 孙志远, 李喆, 许书添, 李世军. 伴肾皮质坏死急性肾损伤患者的临床特点及预后[J]. 肾脏病与透析肾移植杂志, 2022, 31(2): 108-113.
[3]	徐峰, 焦晨峰, 谢红浪, 等. 吉西他滨相关肾损害[J]. 肾脏病与透析肾移植杂志, 2021, 30(6): 591-595.
[4]	陈文萃,梁少姗,左科,等. 以血栓性微血管病为特征的系统性红斑狼疮肾损害——附20例临床病理及预后分析[J]. 肾脏病与透析肾移植杂志, 2019, 28(4): 307-312.
[5]	章海涛,谌达程,周敏林, 等. 双重血浆置换治疗伴血栓性微血管病狼疮性肾炎的临床疗效[J]. 肾脏病与透析肾移植杂志, 2019, 28(3): 201-206.
[6]	周颖, 陈樱花,张明超, 等. 系统性红斑狼疮相关血栓性微血管病血管内皮-间充质细胞转分化的研究[J]. 肾脏病与透析肾移植杂志, 2017, 26(1): 20-25.
[7]	梁少姗\|任强\|徐峰\|等. 血栓性微血管病相关肾脏疾病患者临床病理特点及预后[J]. 肾脏病与透析肾移植杂志, 2015, 24(5): 412-418.
[8]	柳晶\|谢红浪\|梁丹丹\|等. 妊娠相关血栓性微血管病的患者临床和病理特征[J]. 肾脏病与透析肾移植杂志, 2015, 24(4): 325-330.
[9]	张瑾\|付佳\|程震\|等. 干细胞移植后贫血、血小板减少、蛋白尿[J]. 肾脏病与透析肾移植杂志, 2014, 23(6): 582-586.
[10]	陈浩曾彩虹. 局灶节段性肾小球硬化合并溶血尿毒综合征[J]. 肾脏病与透析肾移植杂志, 2013, 22(5): 490-494.
[11]	全军肾脏病研究所学术委员会. 皮肤淤斑、血小板减少伴肾功能损害[J]. 肾脏病与透析肾移植杂志, 2011, 20(3): 290-295.

ISSN 1006-298X CN 32-1425/R

慢性肾炎伴甲基丙二酸血症致血栓性微血管病

Thrombotic microangiopathy caused by chronic nephritis with methylmalonic acidemia#br#
#br#

PDF

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 11

编辑推荐

Metrics

本文评价