Abstract
ObjectiveMultiple endocrine neoplasia type 1-related primary hyperparathyroidism (MHPT) differs in many aspects from sporadic PHPT (SHPT). The aims of this study were to summarize the clinical features and genetic background of Chinese MHPT patients and compare the severity of the disease with those of SHPT.Design and MethodsA total of 40 MHPT (27 sporadic, 7 families) and 169 SHPT cases of Chinese descent were retrospectively analyzed. X-rays and ultrasound were used to assess the bone and urinary system. Dual energy x-ray absorptiometry (DXA) were performed to measure bone mineral density (BMD). Besides direct sequencing of the MEN1 and CDKN1B genes, multiplex ligation-dependent probe amplification (MLPA) was used to screen gross deletion for the MEN1 gene.ResultsCompared with SHPT patients, MHPT patients showed lower prevalence of typical X-ray changes related to PHPT (26.3% vs. 55.7%, P = 0.001) but higher prevalence of urolithiasis/renal calcification (40.2% vs. 60.0%, P = 0.024). MHPT patients showed higher phosphate level (0.84 vs. 0.73mmol/L, P<0.05) but lower ALP (103.0 vs. 174.0U/L, P<0.001) and PTH (4.0 vs. 9.8×upper limit, P<0.001) levels than SHPT patients. There were no significant differences in BMD Z-scores at the lumbar spine and femoral neck between the two groups. Mutations in the MEN1 gene were detected in 27 MHPT cases. Among the nine novel mutations were novel, one of them involved the deletion of exon 5 and 6.ConclusionsMHPT patients experienced more common kidney complications but less skeletal issues, and a milder biochemical manifestation compared with SHPT patients. MEN1 mutation detection rate was 79.4% and 9 of the identified mutations were novel.
Highlights
Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by simultaneously elevated serum calcium and parathyroid hormone (PTH) levels
Compared with sporadic PHPT (SHPT) patients, MEN1-related PHPT (MHPT) patients showed lower prevalence of typical X-ray changes related to PHPT (26.3% vs. 55.7%, P = 0.001) but higher prevalence of urolithiasis/ renal calcification (40.2% vs. 60.0%, P = 0.024)
Mutations in the MEN1 gene were detected in 27 MHPT cases
Summary
Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by simultaneously elevated serum calcium and parathyroid hormone (PTH) levels. Multiple endocrine neoplasia type 1 (MEN1, OMIM #131100) is an autosomal dominant inherited disease characterized by the occurrence of several endocrine tumors. MEN1 accounts for approximately 70% hereditary PHPT [1] and parathyroid tumors occur in nearly 95% of MEN1 patients [2]. The clinical manifestations of MEN1-related PHPT (MHPT) differ from SHPT in many aspects, including an earlier age of onset, more common multiglandular lesions, and milder biochemical presentation in MHPT patients [3, 4]. Change of bone mineral density (BMD) has been widely evaluated in SHPT patients, information on BMD in MHPT patients are limited. The renal complications secondary to MHPT are seldom studied
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