AI Article Synopsis
- Identification of FGF 23 as a key regulator of serum inorganic phosphate levels has improved understanding of hypophosphatemic rickets and osteomalacia, making intact FGF23 measurement essential for diagnosis.
- The article categorizes the causes of chronic hypophosphatemia into four main groups: FGF23-related issues, primary tubular dysfunctions, vitamin D metabolism disturbances, and PTH1R-related factors, with each group having inherited and acquired forms.
- A flowchart is provided to assist in the differential diagnosis of chronic hypophosphatemia, alongside recommendations to measure bone-specific alkaline phosphatase to distinguish between types of hypophosphatemia.
Article Abstract
After identification of fibroblast growth factor (FGF) 23 as the pivotal regulator of chronic serum inorganic phosphate (Pi) levels, the etiology of disorders causing hypophosphatemic rickets/osteomalacia has been clarified, and measurement of intact FGF23 serves as a potent tool for differential diagnosis of chronic hypophosphatemia. Additionally, measurement of bone-specific alkaline phosphatase (BAP) is recommended to differentiate acute and subacute hypophosphatemia from chronic hypophosphatemia. This article divides the etiology of chronic hypophosphatemia into 4 groups: A. FGF23 related, B. primary tubular dysfunction, C. disturbance of vitamin D metabolism, and D. parathyroid hormone 1 receptor (PTH1R) mediated. Each group is further divided into its inherited form and acquired form. Topics for each group are described, including "ectopic FGF23 syndrome," "alcohol consumption-induced FGF23-related hypophosphatemia," "anti-mitochondrial antibody associated hypophosphatemia," and "vitamin D-dependent rickets type 3." Finally, a flowchart for differential diagnosis of chronic hypophosphatemia is introduced.
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| http://dx.doi.org/10.1016/j.beem.2023.101851 | DOI Listing |
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