“A Review Article On: Cystinosis”

A rare autosomal recessive condition called cystinosis is characterized by a buildup of cystine in the lysosomes. The transfer of cystine from the lysosomes into the cytosol is disrupted by pathogenic mutations of the cystinosis gene (CTNS). Cysteine buildup inside lysosomes causes cellular malfunction later on. An incidence of 0.5– 1/100,000 live birth is associated with cystinosis. Nephropathic cystinosis is the most common disease subtype among the three types of cystinosis: neonatal cystinosis, juvenile cystinosis, and ocular cystinosis. The most prevalent way that disease manifests itself is renal impairment. The extrarenal symptoms of cystinosis include hypogonadism, hyperglycemia, and hypothyroidism." Currently, cysteamine, a substance that depletes cystines, is used to treat cystinosis. The main goal of this treatment is to reduce the disease's progression; it is not a cure. Ninety percent of individuals with cystinosis develop renal failure during their first 20 years of life. Patients who have reached this stage of the disease has no other choice except to have a kidney transplant. The pathophysiology and clinical signs of cystinosis are highlighted in this review, along with possible future therapeutic approaches. Keywords: CTNS, kidney failure, cystinosis, cysteine, and cysteamine.