Department of Endocrinology, Christian Medical College, Vellore, India.
Endocr Pract. 2012 Sep-Oct;18(5):e106-10. doi: 10.4158/EP12012.CR.
To describe a family with hereditary paraganglioma due to a disease-causing mutation in the SDHD gene.
We present the clinical findings, diagnostic test results, treatment, and genetic test results in a family with hereditary paraganglioma.
Three siblings with bilateral carotid body tumors presented at different time points and with varied clinical presentations. While the proband, a 20-year-old man, was not hypertensive and had normal urinary metanephrine and normetanephrine levels, his sister and brother had a more severe clinical picture, with hypertension in both and elevated normetanephrine levels in his brother (his brother had pheochromocytoma and 2 intra-abdominal paragangliomas). Mean age at presentation was 24 years. A 4-base pair frameshift mutation, c.337-340delGACT, was detected in exon 4 of the SDHD gene in all 3 patients.
This is the first report of the c.337-340delGACT mutation being associated with hereditary paraganglioma; this report emphasizes the need to screen all at-risk first-degree relatives for the disease-causing SDHD mutation once it has been identified in an affected family member.
描述一个因 SDHD 基因突变导致遗传性副神经节瘤的家系。
我们介绍了一个遗传性副神经节瘤家系的临床发现、诊断试验结果、治疗和基因检测结果。
3 名双侧颈动脉体瘤的兄弟姐妹在不同时间点出现，临床表现不同。虽然先证者（一名 20 岁男性）没有高血压，且尿代谢产物去甲肾上腺素和变肾上腺素水平正常，但他的姐姐和哥哥病情更为严重，两人均有高血压，哥哥的变肾上腺素水平升高（其哥哥患有嗜铬细胞瘤和 2 个腹腔内副神经节瘤）。发病年龄的平均值为 24 岁。在所有 3 名患者的 SDHD 基因第 4 外显子中均检测到 c.337-340delGACT 移码突变。
这是首例 c.337-340delGACT 突变与遗传性副神经节瘤相关的报道；该报告强调，一旦在一个受累家族成员中确定了致病的 SDHD 突变，就需要对所有有风险的一级亲属进行该疾病的 SDHD 突变筛查。
