Phosphate diabetes is a rare inherited disease in which too much phosphate is excreted through the kidneys. This can lead to softening of the bones and growth problems. Here are the signs and consequences of phosphate diabetes.
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What is phosphate diabetes?
Contrary to what the name might suggest, phosphate diabetes has nothing to do with blood sugar levels. Instead, it’s a rare inherited condition (affects about 1 in 20,000 newborns) in which a protein called FGF23 is overactive due to a genetic mutation. FGF23 is responsible for the excretion of phosphate via the kidneys , which is why sufferers excrete too much phosphate – hence the name phosphate diabetes (“diabetes” means “flow through” in Greek). Since phosphate, together with calcium, is responsible for the mineralization and formation of bones, sick children can develop soft bones – ricketscalled – come. Because the hereditary disease is linked to the X chromosome, it is inherited at a higher percentage in girls and is also known as X-linked dominant hypophosphatemic rickets (XLH). The rarity of phosphate diabetes also complicates the diagnosis, since other causes of the symptoms that occur are usually more obvious.
The signs and consequences of phosphate diabetes
You can recognize phosphate diabetes by these signs
The inherited disease usually breaks out in (small) childhood and can already make itself felt when learning to walk through a gait disorder , eg wide-legged waddling. Since the bones can deform as a result of bone softness, leg pain and misalignment of the knees in the form of bow legs or knock knees are typical symptoms. The child’s growth in length can also be restricted. Since the hyperactive protein FGF23 in the kidneys inhibits the conversion and production of active vitamin D, a vitamin D deficiency can occur in phosphate diabetes despite adequate vitamin D intake.
The possible consequences of phosphate diabetes
Phosphate diabetes can cause lifelong discomfort and pain. Due to the impending consequences, treatment that is as rapid and frequent as possible is necessary, in which, for example, a combined preparation of active vitamin D and phosphate is administered or an antibody therapy is used. If left untreated, there are long-term consequences:
- bone deformities
- bone pain
- joint pain
- mobility restrictions
- short stature
- Developmental disorders due to premature closure of the skull bones (craniosynostosis)
