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Endocrine Abstracts (2021) 73 S17.1 | DOI: 10.1530/endoabs.73.S17.1

Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark


The maintenance of a phosphate level within the normal range in the body is essential for an optimal function of several vital processes. Phosphate is an important component of bone and teeth, cell membranes, phospholipids, nucleic acids, enzyme systems, the energy carrier adenosine triphosphate (ATP) among others. Thus, the state of hypophosphatemia potentially disturbs many processes in the body. Hypophosphatemia may be mild, moderate or severe and may develop in acute or chronic disease processes. Examples of diseases characterised by acute hypophosphatemia are refeeding syndrome, diabetic ketoacidosis, and respiratory alkalosis in severe, acute diseases. Most often, chronic hypophosphatemia arises due to increased renal phosphate excretion. X-linked hypophosphatemia (XLH) is an inborn disease where a mutation in PHEX leads to an increased level of fibroblast growth-factor 23 (FGF23), being the main regulatory hormone for the phosphate homeostasis. Increased levels of FGF23 leads to increased renal phosphate excretion in addition to inappropriately low levels of active vitamin D, 1, 25-dihydroxyvitamin D. During periods of skeletal growth, hypophosphatemia causes rickets and osteomalacia, leading to dysproportionate short stature and often bowing of weight bearing long bones. In addition, dental abscesses may occur. Adults with XLH experience osteomalacia, arthrosis, muscle fatigue, and increasing number of dental abscesses by age. A rare achieved phosphate disorder is tumour induced osteomalacia, TIO. An often very little tumour with excess production of FGF23 may lead to invalidating symptoms due to severe hypophosphatemia. In addition, the state of i.v. iron induced, FGF23 mediated hypophosphatemic osteomalacia is a rare complication to medical treatment. These are important differential diagnoses as they are potentially curative.

Volume 73

European Congress of Endocrinology 2021

Online
22 May 2021 - 26 May 2021

European Society of Endocrinology 

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