Koehler Viktoria F, Jungheim Kerstin, Groß Ute, Iacovazzo Donato, Mann Alexander, Korbonits Márta
Endokrinologikum Frankfurt, Frankfurt/Main, Germany.
Endokrinologikum Hamburg, Hamburg, Germany.
Ann Clin Lab Sci. 2017 Sep;47(5):606-610.
We report on a 27-year-old male patient presenting with renal colic secondary to hyperparathyroidism. Further investigations confirmed a diagnosis of type 1 multiple endocrine neoplasia and revealed a 2.0 cm pancreatic neuroendocrine tumour as well as a pituitary macroadenoma with significantly elevated prolactin levels. The patient underwent three-gland parathyroidectomy, a left pancreatectomy, and received dopamine agonist treatment. Genetic testing revealed a novel germline heterozygote missense mutation in the gene (p.Gly42Val) which affects the Smad3 binding domain of the MENIN protein. The same mutation was found in the patient's mother, who on further testing was found to have hyperparathyroidism, a pituitary microadenoma and bilateral adrenal hyperplasia without pituitary or adrenal hormone excess. This case report raises the importance of genetic testing for MEN1 syndrome in a patient even when family history appears to be negative. Following genetic counselling, genetic cascade screening should be considered in family members to identify further gene carriers.
我们报告了一名27岁男性患者，因甲状旁腺功能亢进继发肾绞痛。进一步检查确诊为1型多发性内分泌腺瘤病，并发现一个2.0 cm的胰腺神经内分泌肿瘤以及一个泌乳素水平显著升高的垂体大腺瘤。该患者接受了三腺甲状旁腺切除术、左胰腺切除术，并接受了多巴胺激动剂治疗。基因检测发现该基因存在一种新的种系杂合错义突变（p.Gly42Val），该突变影响MENIN蛋白的Smad3结合域。在患者母亲身上也发现了相同的突变，进一步检查发现她患有甲状旁腺功能亢进、垂体微腺瘤和双侧肾上腺增生，但无垂体或肾上腺激素过多。本病例报告强调了即使家族史看似阴性，对患者进行MEN1综合征基因检测的重要性。经过遗传咨询后，应考虑对家庭成员进行基因级联筛查，以识别更多的基因携带者。
