Cystinosis is a Rare Genetic Condition

A person’s genetic code is inherited from their parents. The genes that control much of their body and eventual growth is a combination of parents. Unfortunately, this isn’t always a good thing. Many people contain genes for diseases or conditions. Some of these are common, but some like Cystinosis are very rare. 

People are born with cystinosis coded into their genes from their parents. What it does is a specific amino acid that’s found in the eyes, kidneys and other organs to accumulate. As more and more accumulates, it’s common for kidneys to fail, muscles to waste away, eyes to become damaged and a litany of other conditions occur. It’s easy to see that though rare, cystinosis is a dangerous condition that can cause severe complications if it goes untreated. 

Causes and Types of Cystinosis

As mentioned before, the cause of cystinosis is a person’s genetic code. Specifically, the gene responsible for cystinosis is a recessive gene. If a single parent has it, then it won’t affect the child. However, if both parents possess the gene with the potential for cystinosis, then it’s possible the child will get it. 

There are differing types of cystinosis. They vary in severity and the age at which the person will contract it. The most common and severe form is called Nephropathic cystinosis. This is also referred to as infantile cystinosis because that’s the most likely time when a child will contract it. Typically this type is apparently between 6 and 12 months of life. 

The second type is intermediate cystinosis. This can also be called juvenile cystinosis. It features many of the same issues as nephropathic cystinosis, but it occurs a little bit later in life. Typically this is seen starting around the age of 8. People can develop the intermediate version throughout their teens as well. Symptoms are not as severe, but the end result of potential kidney failure is just as risky. 

The final type is the least dangerous type of cystinosis. Non-nephropathic cystinosis used to be called “adult cystinosis” due to the adult onset. Happening later in life, this version only features crystal build up in the eyes. 

Signs and Symptoms of Cystinosis

The symptoms of nephrotic cystinosis are the most clear and will appear on the child from a young age. In many cases the young children develop Fanconi syndrome. This syndrome comes from kidney dysfunction and features several prominent symptoms. These symptoms for these two conditions include but are not limited to:  

  • Reduced Growth Rates
  • Vomiting
  • Feeding Difficulty
  • Inability to Gain Weight
  • Sensitivity to Light
  • Excessive Thirst
  • Excess Urine Production
  • Dehydration (Sometimes Accompanied by Fever)
  • Unbalanced Electrolyte Levels
  • Fatigue
  • Dry Skin
  • Constipation
  • Depression

Several of those later symptoms come from the thyroid gland not producing hormones correctly. This typically occurs a little later in childhood, around the age of 10 or so. There’s several other symptoms of older children including being unable to produce saliva or sweat properly, dry eyes, and delayed puberty. It’s important to note that these are only some of the many symptoms that can be seen. Cystinosis can be linked to/cause a horde of other health problems which have a variety of symptoms that may be seen, 

The symptoms for intermediate cystinosis are similar to some of those from earlier. However, they have progressed slower. They are likely seeing during the age of 8 to the age of 20. They are not as severe, but if they are untreated, renal failure is the likely result. The symptoms for non-nephropathic cystinosis are usually singular. Since this form is focused on the eyes, they will notice a sensitivity to light (photophobia) if they don’t receive treatment. 

Treatment of Cystinosis

Treatment for cystinosis can be a difficult and co-ordinated plan between several specialists. Cystinosis used to be a fatal condition with children given roughly 10 years to live. However, modern treatments reduce the amino acid build up and treatment can allow those affected to live a full life. 

The most common treatment is a therapy aimed at depleting the amino acids which are building up. By starting this treatment early, the damage to the kidneys can be minimized and allow them to heal. In addition, reducing build up often allows those suffering from cystinosis to resume their normal growth level! 

While typically the medication is taken orally, this doesn’t work for cases with the eyes. In response, eye drops have been developed to protect the eyes and reduce the amount of photophobia felt by patients.


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