关键词: Case report Early detection Gastrointestinal symptoms Hypercalcemia Multiple endocrine neoplasia type 1

Mesh : Humans Multiple Endocrine Neoplasia Type 1 / surgery diagnosis complications pathology Male Parathyroid Neoplasms / surgery diagnosis pathology complications Parathyroidectomy Middle Aged Hypercalcemia / diagnosis etiology blood Adenoma / surgery diagnosis pathology blood Duodenal Neoplasms / surgery diagnosis pathology Hypophosphatemia / etiology diagnosis Abdominal Pain / etiology diagnosis Neuroendocrine Tumors / surgery diagnosis blood pathology Diarrhea / etiology diagnosis Early Detection of Cancer / methods Gastroscopy Treatment Outcome

来  源:   DOI:10.3748/wjg.v30.i26.3247   PDF(Pubmed)

Abstract:
BACKGROUND: Multiple endocrine neoplasias (MENs) are a group of hereditary diseases involving multiple endocrine glands, and their prevalence is low. MEN type 1 (MEN1) has diverse clinical manifestations, mainly involving the parathyroid glands, gastrointestinal tract, pancreas and pituitary gland, making it easy to miss the clinical diagnosis.
METHODS: We present the case of a patient in whom MEN1 was detected early. A middle-aged male with recurrent abdominal pain and diarrhea was admitted to the hospital. Blood tests at admission revealed hypercalcemia and hypophosphatemia, and emission computed tomography of the parathyroid glands revealed a hyperfunctioning parathyroid lesion. Gastroscopy findings suggested a duodenal bulge and ulceration. Ultrasound endoscopy revealed a hypoechoic lesion in the duodenal bulb. Further blood tests revealed elevated levels of serum gastrin. Surgery was performed, and pathological analysis of the surgical specimens revealed a parathyroid adenoma after parathyroidectomy and a neuroendocrine tumor after duodenal bulbectomy. The time from onset to the definitive diagnosis of MEN1 was only approximately 1 year.
CONCLUSIONS: For patients who present with gastrointestinal symptoms accompanied by hypercalcemia and hypophosphatemia, clinicians need to be alert to the possibility of MEN1.
摘要:
背景:多发性内分泌肿瘤(MENs)是一组涉及多个内分泌腺的遗传性疾病,他们的患病率很低。MEN1型(MEN1)临床表现多样,主要累及甲状旁腺,胃肠道,胰腺和垂体,很容易错过临床诊断。
方法:我们介绍了一例早期检测到MEN1的患者。一名中年男性因反复腹痛和腹泻入院。入院时的血液检查显示高钙血症和低磷酸盐血症,甲状旁腺的发射计算机断层扫描显示甲状旁腺功能亢进病变。胃镜检查结果提示十二指肠膨出和溃疡。超声内镜检查显示十二指肠球部有低回声病变。进一步的血液检查显示血清胃泌素水平升高。进行了手术,手术标本的病理分析显示甲状旁腺切除术后的甲状旁腺腺瘤和十二指肠球部切除术后的神经内分泌肿瘤。从发病到MEN1明确诊断的时间仅为大约1年。
结论:对于出现胃肠道症状并伴有高钙血症和低磷血症的患者,临床医生需要警惕MEN1的可能性.
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