Nephropathic Cystinosis is a rare genetic disease which occurs in approx. 1/100 000-200,000 live births. The disease is characterised by accumulation of the amino acid cystins within lysosomes in the cells, leading to damage in many organs and tissues. It is usually detected in early childhood when the patient develops Fanconi syndrome, a serious disorder of the proximal tubules in the kidneys involving substantially increased volumes of urine. This leads to thirst, risk of acute dehydration and excessive secretion of nutrients and minerals such as glucose, amino acids, phosphates, potassium and sodium. The loss of nutrients impairs growth and can lead to soft, bowed bones. Untreated, the disease leads to chronic kidney failure when the child is about ten years old and can then need dialysis or a kidney transplant.

The disease does not just affect the kidneys, but is multisystemic and can also affect, for example, the eyes, muscles and thyroid, as well as cause neurological impairment, muscle deterioration, diabetes, delayed puberty and infertility in men.

Nephropathic Cystinosis is incurable, but the course of the disease can be slowed by administering the enzyme Cysteamine, a so called enzyme replacement therapy (ERT). Talk to your doctor if you would like to have further information about treatment of Nephropathic Cystinosis.