Personalizing Cystinosis Treatment: The Role of Genetics and Early Diagnosis

Cystinosis is a rare metabolic disorder characterized by the abnormal accumulation of the amino acid cysteine in the cells. This occurs due to a defect in the cystinosin gene which prevents cystine from being transported out of the lysosomes. As cystine crystals accumulate, they can impair the function of organs like the kidneys, eyes, liver, muscles, and brain. There are three main types of cystinosis - nephropathic cystinosis, intermediate cystinosis, and ocular nonnephropathic cystinosis. The most severe form is nephropathic cystinosis which affects newborns and young children

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Cystinosis Treatment: Advancements and Challenges in Managing a Rare Genetic Disorder
The primary goal of Cystinosis Treatment is to reduce the accumulation of cystine crystals in the body and prevent or delay organ damage. The mainstay of treatment is the drug cysteamine, which helps to break down cystine crystals and reduce their buildup within cells. Cysteamine is available in oral and eye drop formulations, and patients typically require lifelong treatment.

Cystinosis is a rare genetic disorder characterized by the accumulation of the amino acid cystine within cells, leading to the formation of cystine crystals. These crystals can damage various organs and tissues throughout the body, particularly the kidneys, eyes, and muscles. The most common form of cystinosis, nephropathic cystinosis, typically manifests in infancy or early childhood and can lead to kidney failure if left untreated.

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