Impaired glucose metabolism and other metabolic disorders in patients with primary hyperparathyroidism

The clinical picture of primary hyperparathyroidism (PHPT) which caused by parathyroid neoplasms often includes metabolic syndrome leading to the development of cardiovascular diseases. According to clinical studies, an increased incidence of diabetes mellitus, insulin resistance, obesity, dyslipidemia, hyperuricemia and other disorders that signifi tly affect the life span and quality are observed in patients with PHPT regardless of the form and the severity of the underlying disease. Basic research shows the potential nonclassical effects of high levels of parathyroid hormone and calcium on adipose tissue, pancreas, gastrointestinal tract and kidneys. However, the pathogenetic mechanisms of impaired carbohydrate and other types of metabolism in patients with parathyroid hyperfunction remain unclear because of the lack of relevant experimental models and the heterogeneity of patient groups. Besides, the effect of surgery on metabolic abnormalities is also controversial. Nowadays a deeper understanding of this issue is required, which can subsequently help in the creation of optimal approach to diagnosis and treatment of patients. This review covers different aspects of metabolic disorders in patients with PHPT, as well as potential key factors of their development

Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene

Neonatal severe primary hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis that manifests shortly after birth with hypercalcemia and bone disease. NSHPT, in most cases, is attributed to mutations in the calcium-sensing receptor (CASR) gene. We reprogrammed dermal fibroblasts derived from a patient with NSHPT carrying a compound heterozygous mutation in the CASR gene into induced pluripotent stem cells (iPSCs). The established iPSCs expressed pluripotency markers, maintained normal karyotype and differentiated into all three germ layers. This line is a valuable resource for modeling of hyperparathyroidism related to CASR mutations