Educate Yourself About Cystinosis
Cystinosis is a rare genetic disorder. It can cause serious problems in the kidneys and eyes of a person. Since cystinosis is a genetic disease, it is passed down from parents to children. Thankfully, it is rather rare. Cystinosis will typically occur in only 1 person out of 100,000 to 200,00 people. It also has a dangerous complication. Cystinosis causes renal Fanconi syndrome which damages a child’s kidneys.
One of the saddest aspects of cystinosis is the people who contract it. The most serious cases of cystinosis start in infants. Cystinosis is very damaging and can cause increasing damage the longer it goes unchecked. Cystinosis is a good demonstration of the power of medical research. What once was a disease which tended to cause death within a decade now allows people to live long into adulthood with appropriate treatment.
Types of Cystinosis
The most common type of cystinosis is nephropathic cystinosis. This form shows up in a person when they are still an infant. This is also the most severe form of cystinosis and the most dangerous.
The second type of cystinosis is intermediate cystinosis. This is often known as juvenile cystinosis. This form has onset that occurs later in life than nephropathic. It can happen to people from the ages of 8 to 20. The third type is known as non-nephropathic cystinosis. This type is considered to be benign and affects adults. The kidneys do not suffer in this form. The problems solely affect a person’s eyes.
Causes of Cystinosis
Cystinosis is a genetic disease. This means that it’s caused by defects in the genes that are passed down to a person from their parents. When it comes to cystinosis, there are people who are carriers and people who are affected. Carriers don’t have symptoms. Carriers however can pass on the disease to their children. In order to get cystinosis, both parents need to be carriers or have the disease. Even if both parents are carriers, there’s no guarantee the child will have cystinosis. There’s a 25% chance both parents pass on the defective gene. There’s a 50% chance that one parent passes on the defective gene and the child becomes a carrier. Finally, there’s a 25% chance that neither parent passes on the defective gene.
Symptoms of Cystinosis
Symptoms can be rather different depending on how cystinosis affects each person. Not every person will have every symptom. Some of the potential symptoms that may be seen with nephropathic cystinosis include:
- Low Growth Rate - Many infants grow incredibly slowly when they have cystinosis. Typically they can be between the first and third percentile for sizes.
- Feeding Issues - Infants may struggle with their appetite and be unable to gain weight. This leads to nutritional deficiency.
- Renal Fanconi Syndrome - This syndrome occurs due to cystinosis and creates many of the symptoms that people suffer from.
- Excessive Thirst - Despite the lack of appetite, children may feel incredibly thirsty. This goes hand in hand with the following two symptoms as well.
- Excessive Urination - This symptom is caused by renal fanconi syndrome.
- Dehydration - This symptoms goes hand in hand with excessive urination.
- Muscle Spasms - These are caused by the low levels of calcium.
- Weakening Muscles - This is a symptom of late onset cystinosis and occurs when cystine in the muscles causes them to weaken and atrophy.
People with intermediate cystinosis have symptoms that are similar, but not necessarily as powerful as the nephrotic cystinosis.
Treatment of Cystinosis
The most important aspect of treatment is a cystine depleting therapy. These therapies have altered the outlook for people who suffer from the various forms of cystinosis. People who get nephrotic cystinosis used to suffer from a shortened lifespan. Survival past 10 years was rare. Today, thanks to cystine depleting therapy, people often live well into adulthood! Sometimes, kidney transplants are necessary.
Since photophobia is a serious aspect of cystinosis in the eyes, there are medications and drugs that work to dissolve the cystine crystals in a person’s eyes. People who are suffering from very serious forms of photophobia need to use eye drops every 60 minutes to ensure it stays in check.
No information on this website should be used to start the use of dietary supplements and vitamins, natural and herbal products, homeopathic medicine and other mentioned products prior to a consultation with a physician or certified healthcare provider.