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目的对1例多发性内分泌腺瘤病Ⅰ型(MEN1)患者进行基因诊断和家系成员的随访。方法收集MEN1患者的临床及家系资料,抽取先证者及5位家系成员外周血提取DNA,对MEN1基因的10个外显子进行PCR扩增,用全自动测序仪进行测序分析。结果(1)经MEN1基因突变检测证实,先证者存在内含子5剪切位点的突变(IVS7+2T→G)。(2)先证者无临床表现的儿子也携带此突变,在基因诊断7个月后出现了明显的临床表现,术后病理证实为胰岛β细胞瘤和左肾上腺腺瘤。结论临床医师应常规对所有MEN1患者及其家系高危成员尽早进行基因突变分析和筛查,并严格随访,从而改善疾病的预后。
Objective To investigate the gene diagnosis and family members of a case of multiple endocrine neoplasia type 1 (MEN1). Methods The clinical and pedigree data of MEN1 patients were collected. Peripheral blood samples from probands and 5 pedigrees were collected to amplify 10 exons of MEN1 gene and sequenced by using automatic sequencer. Results (1) The mutations of intron 5 (IVS7 + 2T → G) in the proband were confirmed by MEN1 gene mutation test. (2) The proband’s non-clinical son also carried this mutation, which showed obvious clinical manifestations after 7 months of gene diagnosis. The postoperative pathology was confirmed as pancreatic beta-cell tumor and left adrenal adenoma. Conclusions Clinicians should routinely conduct genetic mutation analysis and screening of all MEN1 patients and their high-risk members of their pedigree as soon as possible, and strictly follow-up to improve the prognosis of the disease.