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

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

1.
重庆医科大学附属第一医院心血管内科，重庆 400016
2.
重庆医科大学附属第一医院内分泌内科，重庆 400016
3.
河南省胸科医院郑州大学附属胸科医院心血管内科，郑州 450008

详细信息

通信作者:
周建中，E-mail：13108985803@163.com

中图分类号: R544.1;R741
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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

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

1.
Department of Cardiology, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China
2.
Department of Endocrinology, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China
3.
Department of Cardiology, Henan Provincial Chest Hospital, Zhengzhou University, Zhengzhou 450008, China

More Information

Corresponding author: ZHOU Jianzhong, E-mail: 13108985803@163.com

摘要

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。
- 冯·希佩尔－林道综合征 /
- 高血压 /
- 糖尿病
Abstract: Von Hippel-Lindau (VHL) syndrome, also known as cerebral retinal angiomatosis, is a kind of neuroendocrine tumor. The incidence rate is high, and the heredity is very high, which can involve the retina, central nervous system, various organs and various tissue parts. This paper reports a case of VHL syndrome with hypertension and diabetes as the main manifestations, in order to improve the understanding of the disease and reduce misdiagnosis and missed diagnosis.
- von Hippel-Lindau syndrome /
- hypertension /
- diabetes
注释:

作者贡献: 蒲鹏负责收集病例资料，文章撰写并审阅修改；郑晓雅负责收集病例资料，对文章内容进行审阅修改；刘瑞闪负责收集病历资料，文章撰写；周建中负责对文章内容作批评性审阅。

利益冲突：所有作者均声明不存在利益冲突。

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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

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图 2 患者胰腺CT结果

箭头示病灶处

Figure 2. The pancrea CT of the patient

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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

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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

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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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