Purpose: Parathyroid hormone controls calcium and phosphate metabolism. The latter is also regulated by both FGF23 and 1-25(OH)VitaminD. The polymorphic variant c.716 C > T of the FGF23 gene was previously found to be associated with renal phosphate leak/nephrolithiasis. The aim of our research is to study the metabolism of phosphate in a cohort of patients with primary hyperparathyroidism (PHPT) and its impact on bone and kidney.
Methods: We have retrospectively compared a large sample of sporadic PHPT patients (339) with historical comparison cohort (HCC 503: Olivetti Study Group and Siena Osteoporosis Study). Moreover, in 51 PHPT patients, phosphate metabolism indexes were also revaluated at least 2 years after surgical cure. The variant c.716 C > T of the FGF23 gene was genotyped in patients and in a small sample of the control group.
Results: In PHPT patients we found higher levels of serum calcium, PTH, alkaline phosphatase, beta-C-terminal telopeptide (CTx), urinary calcium, while serum phosphate, 25OH-VitaminD, maximal tubular renal phosphate reabsorption adjusted for glomerular filtration rate (TmPO4/GFR) were lower than what was found in HCC. In PHPT patients fibroblast growth factor 23 (FGF23) levels were higher than in controls. Patients with kidney stones carried the 716 T allele more frequently than patients without it (χ 7.20, p = 0.027). In PHPT patients revaluated at least 2 years after surgery, we observed a significant reduction of 1-25(OH)VitaminD and FGF23. According to the median of serum phosphate levels, PHPT patients were subdivided into two subgroups: ≤2.8 mg/dL and > 2.8 mg/dL. The lowest phosphate group had a significantly higher serum calcium, PTH, 1-25(OH)VitaminD, urinary calcium and a higher prevalence of kidney stones than in the highest phosphate group. The rate of males in the lowest phosphate group was significantly higher than in the highest phosphate group.
Conclusion: Our study shows that the regulators of phosphate metabolism in PHPT patients are higher than controls and they significantly reduce after surgical cure. PHPT patients with low serum phosphate have a worse biochemical and clinical phenotype.
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http://dx.doi.org/10.1007/s12020-025-04173-3 | DOI Listing |
Balkan J Med Genet
December 2024
Laboratory of Medical Biology - Genetics, Faculty of Medicine, School of Health Sciences, Aristotle University, Thessaloniki, Greece.
Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterized by the overactivity of the parathyroid glands. While a few genes have been linked to a predisposition for PHPT, the genetic foundation of the disease remains unclear, despite it being the third most prevalent endocrine disorder. This pilot study aimed to investigate, for the first time, the potential association between specific variants in Annexin A2 (-rs7170178, rs17191344, rs11633032), Mediator Complex Subunit 12 (-rs1057519912), Calmodulin 1 (-rs12885713), and Mitogen-Activated Protein Kinase 1 (-rs1057519911) genes with PHPT.
View Article and Find Full Text PDFIndian J Otolaryngol Head Neck Surg
February 2025
Department of General Surgery, Amrita Institute of Medical Sciences, Amrita Hospitals, Kochi, Kerala India.
Despite the popularity of auto analyzers in urban areas of the country the incidence of asymptomatic hyperparathyroidism has not markedly increased and symptomatic diseases are regularly seen in all major institutions. The present single-institution analysis of proven hyperparathyroidism in the last 16 years was aimed at comparing the demographic, clinical, and pathological characteristics of symptomatic and asymptomatic primary hyperparathyroidism and comparing those with the asymptomatic diseases seen in developed countries. A retrospective chart review of 332 patients was done and 29 (8.
View Article and Find Full Text PDFEur J Endocrinol
March 2025
Department of Medicine, Division of Nephrology and Hypertension, University Hospitals of Geneva, Geneva, Switzerland.
Introduction: Primary hyperparathyroidism (PHPT) often causes hypercalcemia and complications requiring parathyroidectomy (PTX). Anemia affects 15-50% of PHPT patients, but its mechanisms remain unclear. While parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23) contribute to anemia in secondary hyperparathyroidism (SHPT) through erythropoietin (EPO) resistance and bone marrow fibrosis, their roles in PHPT are less defined.
View Article and Find Full Text PDFBest Pract Res Clin Endocrinol Metab
March 2025
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Building 10, Room 9C432A, 10 Center Drive, Bethesda, MD 20892, USA. Electronic address:
Familial or heritable hyperparathyroidism (FHPT) is seen in approximately 10-15 % of patients with primary hyperparathyroidism (PHPT). Once the diagnosis of PHPT is established, consideration of heritable forms should be made in patients with positive family history, young onset, multi-glandular disease, and recurrent or persistent disease. FHPT encompasses both syndromic and non-syndromic forms.
View Article and Find Full Text PDFAnn Endocrinol (Paris)
March 2025
Service d'endocrinologie, Hôpital Cochin, Université Paris Cité, 27 rue du Faubourg Saint Jacques, 75014 Paris, France.
Multiple endocrine neoplasia type-1 (MEN1) is a rare genetic disease with autosomal dominant transmission, which can cause various tumors, particularly endocrine, in a given patient. Primary hyperparathyroidism (PHPT) is the most common and earliest manifestation, leading to surgery before the age of 50 in most patients. Biological severity and renal and/or bone complications dictate the timing of parathyroid surgery.
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