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Background: Chronic idiopathic hypophosphatemia (CIH) induced by X-linked hypophosphatemic rickets or tumor-induced osteomalacia is a rare inherited or acquired disorder. However, due to its rarity, little is known about the epidemiology and natural course of CIH. Therefore, we aimed to identify the prevalence and long-term health outcomes of CIH patients.
Methods: Using the Korean Health Insurance Review and Assessment claims database, we evaluated the incidence of hypophosphatemia initially diagnosed from 2003 to 2018. After excluding secondary conditions that could change serum phosphorus levels, we identified 154 patients (76 men and 78 women) with non-secondary and non-renal hypophosphatemia. These hypophosphatemic patients were compared at a ratio of 1:10 with age-, sex-, and index-year-matched controls (n = 1,540).
Results: In the distribution of age at diagnosis, a large peak was observed in patients aged 1-4 years and small peaks were observed in ages from 40-70 years. The age-standardized incidence rate showed non-statistically significant trend from 0.24 per 1,000,000 persons in 2003 to 0.30 in 2018. Hypophosphatemic patients had a higher risk of any complication (adjusted hazard ratio [aHR], 2.17; 95% confidence interval [CI], 1.67-2.69) including cardiovascular outcomes, chronic kidney disease, hyperparathyroidism, osteoporotic fractures, periodontitis, and depression. Hypophosphatemic patients also had higher risks of mortality and hospitalization than the controls (aHR, 3.26; 95% CI, 1.83-5.81; and aHR, 2.49; 95% CI, 1.97-3.16, respectively).
Conclusion: This first nationwide study of CIH in South Korea found a bimodal age distribution and no sex differences among patients. Hypophosphatemic patients had higher risks of complications, mortality, and hospitalization compared to age- and sex-matched controls.
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http://dx.doi.org/10.3389/fendo.2023.1229750 | DOI Listing |
Calcif Tissue Int
September 2025
Department of Endocrinology, Post-Graduate Institute of Medical Education and Research (PGIMER), 001, Nehru Extension Block, Chandigarh, India.
Rare diseases, defined by the 2002 Rare Disease Act, affect fewer than 5 in 10,000 individuals. Rare metabolic bone diseases (MBDs), such as osteogenesis imperfecta, hypophosphatasia, osteopetrosis, and other unclassified disorders, can disrupt bone development and remodeling, posing diagnostic and management challenges. This study analyzed data from the rarembd.
View Article and Find Full Text PDFJCEM Case Rep
October 2025
Department of Neurological Surgery, Sidney Kimmel College of Medicine, Thomas Jefferson University, Philadelphia, PA.
A 73-year-old woman with a remote history of successfully treated primary hyperparathyroidism was referred to our office because of multiple skeletal fractures and proximal muscle weakness. Prior laboratory evaluation demonstrated hypocalcemia, vitamin D deficiency, elevated PTH, and elevated alkaline phosphatase. Updated evaluation in our clinic additionally showed hypophosphatemia prompting measurement of serum fibroblast growth factor 23 (FGF23).
View Article and Find Full Text PDFReports (MDPI)
August 2025
Department of Pediatric Dentistry, Faculty of Dental Medicine, Medical University of Sofia, 1000 Sofia, Bulgaria.
X-linked hypophosphatemic rickets (XLH) is a rare genetic disorder with a frequency of 1:20,000, caused by mutations in the PHEX gene, resulting in impaired phosphate metabolism and bone mineralization. There is an association between hypophosphatemia and dental issues, though this link is not definitively established. This study aims to evaluate the dental status, including oral hygiene, caries prevalence, and malocclusions, as well as parental awareness of dental complications, in children with XLH in Bulgaria, particularly those receiving or about to begin burosumab treatment, and to compare their oral health status with that of healthy children.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
August 2025
Pediatric Endocrinology, Basaksehir Cam ve Sakura City Hospital, İstanbul, Türkiye.
Objectives: Parathyroid carcinoma is the rarest etiological cause of primary hyperparathyroidism and is exceedingly rare in the pediatric population. Clinical manifestations include severe hypercalcemia, pathological fractures, and bone pain. Diagnosis is typically established through surgical intervention and histopathological examination; however, genetic analyses can also support the diagnosis.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
August 2025
Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Both hypophosphatemic osteomalacia and primary hyperparathyroidism (PHPT) can lead to hypophosphatemia, but their simultaneous occurrence in the same patient is exceedingly rare. This article reports a case of a 43-year-old female patient whose primary clinical manifestations included pain in the lumbosacral and scapular regions, restricted mobility, and biochemical findings of decreased serum phosphate levels with normal parathyroid hormone (PTH) levels. The patient's symptoms improved after treatment with active vitamin D supplementation, although neutral phosphate supplements were not administered.
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