Background Renal hyperparathyroidism is a disease entity that is complex and poorly understood. Although there are guidelines regarding how to manage this patient group, evidence is scarce.... Show moreBackground Renal hyperparathyroidism is a disease entity that is complex and poorly understood. Although there are guidelines regarding how to manage this patient group, evidence is scarce. Therefore, this survey-based study aims to map the physicians' attitude in terms of preference for management of renal hyperparathyroidism and the influence of patient and respondent factors. Methods A survey was sent to Dutch societies of nephrology, endocrinology, and surgeons with interest in endocrine surgery. The survey consisted of eight case vignettes of renal hyperparathyroidism patients who were on hemodialysis and suitable for kidney transplantation, and varied in one of three patient variables import for decision making: age (40 vs. 65 years), parathyroid hormone (40 vs. 90 pmol/L), and serum calcium level (2.25 vs. 2.8 mmol/L). For each case, respondents could choose between maintaining conservative treatment (active vitamin D metabolites), calcimimetics, or subtotal parathyroidectomy as their treatment of choice. Categorical multilevel logistic models were used to investigate the association of patient and respondent variables with treatment preference. The influence of patient variables was determined independently of each other and by means of logistic regression the probabilities of treatment choice were calculated. Results In total, 115 surveys were included in the analysis. In 6 out of 8 cases, less than two-thirds of respondents agreed on the most favoured treatment. Among patient characteristics, the main disincentive for respondents not to choose conservative therapy was an elevated serum calcium level (subtotal parathyroidectomy vs conservative OR 93.1, 95%-CI: 48.39-179.07 and calcimimetics vs conservative OR 31.2 95%-CI: 18.58-52.30). Additionally, the most significant treatment differences were found between medical specialties and the experience of the respondents, expressed as the amount of cases the physician was involved in during the past year. Conclusions Elevated serum calcium levels were widely recognized and the prime reason for respondents to abandon conservative treatment. However, considerable disagreement in treatment preferences remained throughout the cases, demonstrating the current literature available being inconclusive in guiding physicians. Therefore, a high-quality trial comparing subtotal parathyroidectomy to medical treatment is needed to determine optimal treatment. Show less
Plas, W.Y. van der; Dulfer, R.R.; Koh, E.Y.; Vogt, L.; Appelman-Dijkstra, N.M.; Schepers, A.; ... ; Dutch Hyperparathyroidism Study Gr 2018
HPT-JT syndrome is a rare disease characterized by parathyroid tumours (with a high percentage of carcinomas), jaw and kidney tumours. In this thesis, the clinical and genetic features of the HPT... Show moreHPT-JT syndrome is a rare disease characterized by parathyroid tumours (with a high percentage of carcinomas), jaw and kidney tumours. In this thesis, the clinical and genetic features of the HPT-JT syndrome and the relationship between the HRPT2 gene and parathyroid tumours were investigated. We report the identification of the HRPT2 gene, located on chromosome 1q, a gene encoding a protein referred to as parafibromin. Germ-line mutations in this gene are responsible for the HPT-JT syndrome and a part of the sporadic parathyroid carcinomas. Loss of parafibromin in immunohistochemical staining seems a promising marker in the diagnosis of parathyroid carcinomas. Furthermore, we tried to gain insight in the molecular mechanisms of parathyroid tumourigenesis to improve the accuracy of diagnosis of these tumours. Molecules such as APP, E-cadherin andCASR might play a role in HRPT2 driven tumourigenesis. Show less
