Genetic causes of hypophosphatemia
Nuria Puente1,2,3,4, Pablo Solis1, Jose A Riancho5,2,3,4
1Service of Internal Medicine, Hospital U. M. Valdecilla, University of Cantabria, Santander, Spain.
Minerva Medica
|May 10, 2024
Summary
This review updates genetic disorders affecting phosphate transporters and hormones, leading to hypophosphatemia. Understanding these conditions is crucial for managing phosphate balance in mineralized tissues.
Area of Science:
- Biochemistry
- Genetics
- Endocrinology
Background:
- Phosphate is vital for mineralized tissues and organic compounds.
- Phosphorus homeostasis relies on intestinal absorption and renal excretion.
- Hormonal regulation involves parathyroid hormone (PTH), vitamin D, and FGF23.
Purpose of the Study:
- To provide an update on genetic disorders impacting phosphate homeostasis.
- To review conditions affecting phosphate transporters and regulating hormones.
- To highlight the resulting hypophosphatemia.
Main Methods:
- Literature review of genetic disorders.
- Analysis of mechanisms affecting phosphate transport.
- Examination of hormonal regulation in phosphate balance.
Main Results:
- Identified genetic disorders impacting cell membrane phosphate transporters.
- Reviewed genetic conditions affecting phosphate-regulating hormones.
- Highlighted the link between these disorders and hypophosphatemia.
Conclusions:
- Genetic disorders of phosphate transporters and hormones are significant causes of hypophosphatemia.
- Further research is needed to understand and manage these complex conditions.
- This review consolidates current knowledge on phosphate-related genetic disorders.
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