Problem 15: Cystinosis
Cystinosis is a rare, genetic metabolic disorder characterized by the buildup of the amino acid cystine within cells, leading to the formation of crystals in various organs and tissues, including the kidneys. Over time, these crystals can cause damage to the kidneys and impair their function.
Cystinosis is typically diagnosed in infancy or early childhood and, if left untreated, can lead to kidney failure by early adulthood.
Symptoms of cystinosis may include:
• Increased urination and thirst
• Failure to thrive and growth retardation
• Dehydration and electrolyte imbalances
• Swallowing difficulties
• Photophobia (sensitivity to light)
Treatment for cystinosis primarily focuses on managing the buildup of cystine and preventing complications. This may involve medications to help remove cystine from cells, nutritional supplements, and monitoring of kidney function. In advanced cases, dialysis or a kidney transplant may be necessary. (15)
