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Kidney Problems in Lowe Syndrome

Renal Fanconi syndrome is known to occur in several genetic syndromes, as well as in Lowe syndrome. In Lowe syndrome the structures of the kidneys are abnormal, so some substances are not reabsorbed following filtration of urine as they should be. This leakage leads to a shortage of these substances in the blood (in particular potassium, phosphate and bicarbonate), which have to be supplemented life-long in order to maintain optimal conditions for growth and bone health. The severity of this reabsorption issue varies from mild to severe within Lowe syndrome and has to be assessed regularly by a nephrologist.


Fanconi syndrome can be associated with the development of kidney stones, due to the excessive loss of calcium, and deposits of calcium in the kidney tissue (nephrolithiasis).


Progressive scarring of the kidneys becomes evident in the second decade of life for most individuals with Lowe syndrome and eventually leads to end-stage kidney disease. This can occur between the second and fourth decades of life.  


 

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