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以高血压、糖尿病为首发表现的冯·希佩尔-林道综合征一例

蒲鹏 郑晓雅 刘瑞闪 周建中

蒲鹏, 郑晓雅, 刘瑞闪, 周建中. 以高血压、糖尿病为首发表现的冯·希佩尔-林道综合征一例[J]. 罕见病研究, 2023, 2(1): 115-120. doi: 10.12376/j.issn.2097-0501.2023.01.016
引用本文: 蒲鹏, 郑晓雅, 刘瑞闪, 周建中. 以高血压、糖尿病为首发表现的冯·希佩尔-林道综合征一例[J]. 罕见病研究, 2023, 2(1): 115-120. doi: 10.12376/j.issn.2097-0501.2023.01.016
PU Peng, ZHENG Xiaoya, LIU Ruishan, ZHOU Jianzhong. A Case Report of Von Hippel-Lindau Syndrome with Hypertension and Diabetes as the First Manifestation[J]. Journal of Rare Diseases, 2023, 2(1): 115-120. doi: 10.12376/j.issn.2097-0501.2023.01.016
Citation: PU Peng, ZHENG Xiaoya, LIU Ruishan, ZHOU Jianzhong. A Case Report of Von Hippel-Lindau Syndrome with Hypertension and Diabetes as the First Manifestation[J]. Journal of Rare Diseases, 2023, 2(1): 115-120. doi: 10.12376/j.issn.2097-0501.2023.01.016

以高血压、糖尿病为首发表现的冯·希佩尔-林道综合征一例

doi: 10.12376/j.issn.2097-0501.2023.01.016
详细信息
    通信作者:

    周建中,E-mail:13108985803@163.com

  • 中图分类号: R544.1;R741

A Case Report of Von Hippel-Lindau Syndrome with Hypertension and Diabetes as the First Manifestation

More Information
  • 摘要: 冯·希佩尔-林道(VHL)综合征,又称脑视网膜血管瘤病,属于神经内分泌肿瘤的一种。发病率较高,且遗传性极高,可涉及视网膜及中枢神经系统、各个脏器和各种组织部位等。本文报道1例以高血压、糖尿病为主要表现的VHL综合征,旨在提高对本病的认识,减少误诊和漏诊。

     

  • 图  1  先证者及家族病史遗传谱

    Figure  1.  The genetic spectrum of the proband and the family history

    图  2  患者胰腺CT结果

    箭头示病灶处

    Figure  2.  The pancrea CT of the patient

    图  3  患者肾上腺及肾脏CT结果

    箭头示病灶处

    Figure  3.  The adrenal gland and kidney CT of the patient

    图  4  患者肾上腺切除组织病理结果

    A.(HE×400)示肿瘤细胞与正常嗜铬细胞相似,异型性不明,呈巢状排列,胞质嗜碱,呈颗粒样,核仁明显,周围可见支持细胞;B.(CgA×400)与C.(Syn×400)示肿瘤细胞CgA、Syn阳性,可鉴别肾上腺皮质肿瘤和转移性非神经内分泌肿瘤;HE:苏木精-伊红染色;CgA染色:嗜铬颗粒蛋白A免疫组化染色;Syn染色:突触素免疫组化染色

    Figure  4.  Histopathology of adrenalectomy of the patient

    表  1  患者基因检测结果

    Table  1.   Genetic test results of the patient

    基因 染色体位置 转录本编号 外显子 核苷酸变化 氨基酸变化 致病性分析 纯合/杂合 遗传方式 疾病/表型
    VHL chr3-10191506 NM_000551 exon3 c.499C>T p.R167W Pathogenic het 1.AD
    2.AD
    3.AR
    1.VHL综合征
    2.嗜铬细胞瘤
    3.家族性红细胞增多症2型
    SDHB chr1-17349143 NM_003000 exon7 c.725G>A p.R242H Pathogenic het 1.AD
    2.AD
    3.-
    4.AD
    5.AD
    1.多发性错构瘤综合征
    2.胃肠道间质瘤
    3.副神经节瘤合并胃恶性间质瘤
    4.副神经节瘤4型
    5.嗜铬细胞瘤
    AD:常染色体显性遗传;AR:常染色体隐性遗传; VHL综合征: 冯·希佩尔-林道综合征; het:杂合突变
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出版历程
  • 收稿日期:  2022-11-25
  • 录用日期:  2023-01-01
  • 网络出版日期:  2023-03-07

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