Nephropathic cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by accumulation of the amino acid cystine within lysosomes in the cells, leading to damage in many organs and tissues.1,2
Nephropathic cystinosis is not only a renal disorder, but a multisystemic disease that could lead to ocular and neurologic impairment, muscle deterioration, diabetes, thyroid and infertility in affected men.1
Transmission is autosomal recessive: two altered copies of the gene from both parents are needed to manifest the disease.1 It is an ultra-rare disease, with an estimated incidence of around 1 in 100,000 – 1 in 200,000 live births.1
- Genetics Home Reference. National Institutes of Health. https://ghr.nlm.nih.gov/condition/cystinosis. Last accessed: December 20, 2019.
- Cystinosis Research Network. https://www.cystinosis.org/support-resources/managing-cystinosis/. Last accessed: December 20, 2019.