Educate Yourself About Cystinosis

While many diseases are well known and easily referenced, there are many rare and troubling diseases and conditions as well. Many of these come from a person’s genetic code. Genes passed down from parents play an important role in the health of the child. In some cases, a combination of genes results in a rare and harmful genetic condition. 

Cystinosis is a rare genetic inheritable disease that causes damage to tissues and organs, particularly the kidneys and the eyes. This disease involves an excessive buildup amino acids in the lysosomes. The mutated gene is recessive so the incidence of this condition is very rare. Cystinosis is often only found in 1 of every 100,000 newborns worldwide. The disease has 3 different categories of cystinosis with various degrees of symptoms from kidney failure to light sensitivity of the eyes.

Causes of Cystinosis

Cystinosis is a metabolic disease caused by a mutation in the gene for the lysosome membrane. This mutation prevents the lysosomes from moving the amino acid across the membrane. This buildup causes crystals to form which results in damage to tissues and organs. 

Since cystinosis is inherited, this means the gene comes from the parents of the affected person. In this case, the mutated gene is recessive. Recessive genes mean both parents must be carriers of the mutation for their child to get cystinosis. 

Types of Cystinosis

There are three different types of cystinosis with varying symptoms and severity. Nephropathic cystinosis, also known as Fanconi syndrome affects infants and young children. These children have a slower growth rate and have kidney problems. The kidney problems result in loss of essential vitamins and nutrients can cause other health problems like rickets. Children with this disease will also urinate more frequently and as a result will be dehydrated. Eventually crystals form in the cornea and the eyes become very sensitive to light. Without treatment children will experience complete kidney failure by 10 years old.

Intermediate cystinosis is the same as nephropathic cystinosis except the symptoms being at an older age. Children develop kidney problems and eye issues around the age of 12 to 15. 

People suffering from non-nephropathic cystinosis are very sensitive to light. Other complications can include diabetes, blindness, skin pigment problems as well as nervous system problems.

Signs and Symptoms of Cystinosis

The earliest signs are of cystinosis are increased urination due to malfunctioning kidneys. The malfunctioning kidneys increase the vitamins and nutrients in the body resulting in other serious issues like the bone disease rickets. The loss of these important nutrients also affects skin and hair as well as the nervous system. Crystals form from the excessive amino acids in the lysosomes and build up. This buildup in the eyes causes sensitivity in the cornea known as photophobia. Children and young adults with cystinosis are typically smaller in size than fully healthy individuals. Kidney failure is almost certain by the late teens to early twenties. 

Treatment for Cystinosis

All treatment plans should be planned by a doctor for each individual. While some treatments are common, a person’s individual health history can play a big role in the treatment they receive. 

Treatment for cystinosis is usually going to start with medication. This can be taken as a tablet or eye drops to minimize the symptoms someone is feeling. In addition to drugs/medication, people who suffer from this disorder usually take supplements like phosphate and potassium to replace the nutrients lost from the excessive urination. Vitamin D is also recommended to help ward off the potential of getting the bone disease rickets.