Which are the symptoms of 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 an accumulation of cystine within various organs and tissues, causing a range of symptoms and complications. The severity and progression of symptoms can vary widely among individuals with cystinosis.

Symptoms of Cystinosis:

1. Renal (Kidney) Symptoms:

Nephropathic cystinosis is the most common and severe form of the disease, primarily affecting the kidneys. Symptoms related to the kidneys may include:

• Excessive thirst and urination


• Poor growth and weight gain


• Dehydration


• Electrolyte imbalances


• Proteinuria (presence of protein in urine)


• Renal Fanconi syndrome (impaired reabsorption of essential substances by the kidneys)


• Progressive kidney damage leading to end-stage renal disease

2. Ocular (Eye) Symptoms:

Ocular cystinosis affects the eyes and is typically seen in individuals with nephropathic cystinosis. Eye-related symptoms may include:

• Photophobia (sensitivity to light)


• Corneal crystals (crystal-like deposits on the cornea)


• Conjunctivitis (inflammation of the conjunctiva)

3. Endocrine Symptoms:

Cystinosis can also affect various endocrine glands, leading to hormonal imbalances and related symptoms:

• Hypothyroidism (underactive thyroid gland)


• Diabetes mellitus (high blood sugar levels)


• Delayed puberty


• Short stature

4. Musculoskeletal Symptoms:

Some individuals with cystinosis may experience musculoskeletal symptoms, including:

• Muscle weakness


• Osteopenia or osteoporosis (reduced bone density)


• Joint pain and stiffness

5. Other Symptoms:

In addition to the above, cystinosis can also manifest with other symptoms:

• Swallowing difficulties


• Enlarged liver and spleen


• Respiratory problems


• Neurological complications (rare)

It is important to note that the symptoms and their severity can vary depending on the type of cystinosis an individual has. Nephropathic cystinosis is the most severe form, while non-nephropathic or ocular cystinosis tends to have milder symptoms primarily affecting the eyes.

Early diagnosis and treatment are crucial in managing cystinosis. A healthcare professional should be consulted if any of the above symptoms are observed, especially in children. Genetic testing can confirm the diagnosis, and a multidisciplinary approach involving various specialists is often necessary to provide comprehensive care and support for individuals with cystinosis.