陈沛沛, 田庄, 陈伟, 马明圣, 刘鑫, 秦岩, 徐海峰, 朱志军, 张抒扬. 纯合子家族性高胆固醇血症患儿肝移植术治疗随访一例[J]. 罕见病研究, 2023, 2(1): 55-62. DOI: 10.12376/j.issn.2097-0501.2023.01.008
引用本文: 陈沛沛, 田庄, 陈伟, 马明圣, 刘鑫, 秦岩, 徐海峰, 朱志军, 张抒扬. 纯合子家族性高胆固醇血症患儿肝移植术治疗随访一例[J]. 罕见病研究, 2023, 2(1): 55-62. DOI: 10.12376/j.issn.2097-0501.2023.01.008
CHEN Peipei, TIAN Zhuang, CHEN Wei, MA Mingsheng, LIU Xin, QIN Yan, XU Haifeng, ZHU Zhijun, ZHANG Shuyang. A Case Report of Homozygous Familial Hypercholesterolemia Liver Transplantation[J]. Journal of Rare Diseases, 2023, 2(1): 55-62. DOI: 10.12376/j.issn.2097-0501.2023.01.008
Citation: CHEN Peipei, TIAN Zhuang, CHEN Wei, MA Mingsheng, LIU Xin, QIN Yan, XU Haifeng, ZHU Zhijun, ZHANG Shuyang. A Case Report of Homozygous Familial Hypercholesterolemia Liver Transplantation[J]. Journal of Rare Diseases, 2023, 2(1): 55-62. DOI: 10.12376/j.issn.2097-0501.2023.01.008

纯合子家族性高胆固醇血症患儿肝移植术治疗随访一例

A Case Report of Homozygous Familial Hypercholesterolemia Liver Transplantation

  • 摘要: 纯合子家族性高胆固醇血症(HoFH)是一种严重的常染色体遗传代谢性疾病,未经治疗干预的患者常因极高水平低密度脂蛋白胆固醇(LDL-C)导致早发动脉粥样硬化性心血管疾病(ASCVD),往往在30岁前死亡。本团队报道1例复合杂合突变的HoFH患儿,常规饮食控制加降脂药物治疗效果不佳,血脂净化治疗虽然有效,但难以长期维持应用。之后进行同种原位肝移植并进行了2年的随访观察,患儿LDL-C水平长期维持在正常水平,生长发育良好。本病例的报道希望能够提高临床医师对HoFH疾病诊断和综合治疗策略的了解。

     

    Abstract: Homozygous familial hypercholesterolemia (HoFH) is a rare and serious autosomal genetic metabolic disease. Patients without intervention often die younger than 30 years old from early atherosclerotic cardiovascular disease (ASCVD)incurred by extremely high levels of low-density lipoprotein cholesterol (LDL-C). We present a case of HoFH, a child with compound heterozygous mutation in this study. The effect of conventional lipid-lowering therapy through diet control and lipid-lowering drugs was unsatisfactory. The blood-lipid purification proves effective but has poor compliance and difficult to maintain for a longer time. The patient received orthotopic liver transplantation and had been followed for 2 years, with the patient shows normal LDL-C, well growth and development. We hope the case will provide the clinician with better understanding of the diagnosis and treatment of the rare disease of HoFH.

     

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