Warning Signs And Complications Of Cystinosis

Muscle Wasting

The kidneys are the most severely affected organ system in children with cystinosis, and untreated cystinosis leads to death due to kidney failure. However, other organ systems also experience problems and a variety of symptoms. Muscle wasting or atrophy is commonly observed in children with cystinosis. Research has strongly established muscle atrophy is a complication of cystinosis, but there isn't conclusive evidence as to how. While the most common cause of muscle atrophy is a lack of physical activity, unexplained muscle wasting is a sign of an underlying condition. Children with cystinosis may experience muscle wasting because their small intestine doesn't have the ability to absorb the necessary nutrients for growth and physical health. The cystine levels themselves may also contribute to muscle atrophy. In similar conditions, like hypercalcemia, substance buildups cause muscle weakness.

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Excessive Thirst And Urination

Children with infantile cystinosis develop excessive thirst and urination before they're a year old. Though the symptoms caused by damage to other organs will vary in severity and appearance, all children with cystinosis tend to develop this excessive urination and thirst. The disease causes a type of kidney damage called Fanconi syndrome. Rather than important particles being absorbed back into the bloodstream, these substances leave the body through the urine. The inability to reabsorb nutrients leads to many health complications. Children don't get the necessary fluids, salts, and minerals for growth. Because the nutrients in the body are so imbalanced, children become excessively thirsty, urinate more, and become dehydrated easily. Excessive thirst can be a symptom of many different conditions, but as it's a potential indicator of organ damage, it's important to consult a doctor about unexplained thirst. It's doubly important when the patient experiencing the symptom is a very young child.

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