Objective To summary the experience in diagnosis and managements for primary hyperparathyroidism(PHPT). Methods The clinical data of 73 patients with PHPT who underwent parathyroidectomy in our hospital from Jan. 2003 to Dec. 2010 were analyzed retrospectively. Results There were 1 case of hyperplasia (1.4%), 67 cases of adenoma (91.8%), and 5 cases of adenocarcinoma (6.8%) among the 73 cases of PHPT. The common presentations involved with pain in bones and joints in 63 cases (86.3%), pathologic fractures in 17 cases (23.3%), osteoporosis in 59 cases (80.8%), fatigue in 28 cases (38.4%), abdominal pain in 4 cases (5.5%), urolithiasis in 17 cases (23.3%), malignant hypertension in 1 case (1.4%) who suffered multi-endocrine neoplasm (MEN)Ⅱa, and so on. The preoperativeserum parathyroid hormone (PTH) abnormally elevated in all 73 patients, and serum calcium abnormally elevated in 59 patients (80.8%), and alkaline phosphatase abnormally elevated in 62 patients (84.9%) before operation. The positive rate of lesion locations by ultrasonography, CT, 99Tcm-sestamibi (MIBI) scan, and the combination of 3 kinds of tests were 82.8% (53/64), 83.3% (20/24), 90.2% (46/51), and 91.8% (67/73) respectively, but 6 cases were not traced preop-eratively. Parathyroidectomy was conducted to all the cases, besides, regional neck lymphadenectomy was performed for those 5 adenocarcinoma cases. Tetany in 16 cases, hoarseness in 2 cases, acute pancreatitis in 1 case, acute left heart failure in 1 case were observed after operation. Sixty nine cases were follow-up for 3-72 months (average 17.3 months). During the followed-up period, most of them were alleviated from bone pain (43 cases) and fatigue (18 cases)within 1 month. However, the recovery of PTH and serum calcium back to normality were relatively slow. One case ofadenoma recurred, 1 case of adenocarcinoma suffered lung metastasis, 1 case of adenocarcinoma survived for 37 monthsprior to death for postoperative lung and bone metastasis, the other cases (including 1 case of adenocarcinoma developed from adenoma) were still alive and had no metastasis or recurrence by the end of follow-up. Conclusions The symptoms of PHPT vary and lack of specificity, hence, the enhancement of knowledge to this disease and screenings conducted for parathyroid function and serum calcium will increase the rate of diagnosis. Parathyroidectomy is the effective management for PHPT, and preoperatively accurate position contribute to minimal exploration.
ObjectiveTo summarize the clinical manifestations, pathogenesis, diagnosis and treatment of multiple endocrine neoplasia type 1 (MEN-1) so as to improve the understanding of MEN-1.MethodThe clinical data of 1 case of MEN-1 with new mutated gene in the Yantai Yuhuangding Hospital of Medical College of Qingdao University (our hospital) were analyzed retrospectively.ResultsThe patient was a 73-year-old woman, who was admitted to our hospital because of “abdominal pain, diarrhea” for 4 d. After discussion by a multidisciplinary team, MRI of pancreatic, adrenal and pituitary, and endoscopy examinations were performed to further identify the cause of diarrhea. Meanwhile, MEN-1 gene was detected in the peripheral blood of the patient and her relatives, and the result showed that the proband and his daughter had a cytosine deletion at c.1401 in exon 10 of MEN-1 gene, which resulted in frame shift mutation of p.e468r fs, it was confirmed as MEN-1. After 5 d of conservative treatment of the disease, the patient’s family requested discharge and the patient died half a month after discharge.ConclusionsMEN-1 is a rare autosomal dominant inheritable disease, with diverse clinical manifestations and easy misdiagnosis. Therefore, it is necessary to be alert to abnormal indicators in the glands associated with MEN-1, so as to achieve early diagnosis and treatment.