How do I know if I have Cystinosis?

Cystinosis is a rare genetic disorder that affects the body's ability to transport the amino acid cystine out of cells. This leads to a buildup of cystine within various organs and tissues, causing damage over time. While it primarily affects the kidneys, it can also impact other organs such as the eyes, liver, muscles, and brain.

Symptoms:

The signs and symptoms of cystinosis can vary depending on the age of onset and the severity of the condition. In infants, the most common initial symptom is excessive thirst and urination. This is often accompanied by poor growth and delayed development. As the disease progresses, other symptoms may include:

• Dehydration and electrolyte imbalances


• Weakness and fatigue


• Photophobia (sensitivity to light) and eye pain


• Progressive kidney damage leading to renal failure


• Motor difficulties and muscle wasting


• Endocrine abnormalities such as hypothyroidism


• Seizures and intellectual disability (in rare cases)

Diagnosis:

If you suspect you or your child may have cystinosis, it is important to consult a healthcare professional. The diagnosis of cystinosis typically involves:

• Medical history and physical examination: The doctor will review your symptoms and perform a thorough physical examination.


• Urinalysis: A urine test can detect elevated levels of cystine, which is a key indicator of cystinosis.


• Genetic testing: A blood sample may be taken to analyze the DNA for mutations in the CTNS gene, which is responsible for cystinosis.


• Eye examination: An ophthalmologist may evaluate the presence of corneal crystals, a characteristic feature of cystinosis.


• Kidney function tests: Blood tests can assess kidney function and identify any abnormalities.

Treatment:

While there is currently no cure for cystinosis, treatment aims to manage symptoms and slow down disease progression. The primary treatment involves cystine-depleting medications that help reduce cystine buildup in the body. Additionally, supportive therapies may be recommended to address specific complications, such as kidney transplantation for end-stage renal failure or corneal transplantation for severe eye involvement.

If you suspect you or your child may have cystinosis, it is crucial to seek medical attention for proper diagnosis and appropriate management.

by Diseasemaps