What is Cystinosis?
Cystinosis is a rare disease that primarily affects
children. Cystinosis is a genetic metabolic disease
that causes an amino acid, cystine, to accumulate
in various organs of the body. Cystine crystals accumulate
in the kidneys, eyes, liver, muscles, pancreas, brain
and white blood cells. Without specific treatment,
children with cystinosis develop end stage kidney
failure at approximately age nine.
Cystinosis is a recessive
and rare genetic disease. This means that both parents
have to be carriers of Cystinosis. If they are, the
chance of having a child with Cystinosis is one in
four for each pregnancy. Cystinosis is a metabolic,
lysosomal, storage disease that produces abnormal
accumulation of the amino acid cystine in various
organs and tissues of the body. The most common organs
affected are the kidneys, eyes, muscles, liver, pancreas,
thyroid, and brain.
Cystine accumulation causes widespread
tissue and organ damage. To much accumulation can
lead to kidney failure, muscle wasting, swallowing
difficulty, diabetes, hypothyroidism, cerebral atrophy,
photophobia, blindness, corneal ulceration, and more.
Without treatment, children with Cystinosis will
usually develop end stage kidney failure by 9 years
of age. With treatment, the speed of the organ
deterioration is reduced and eye problems minimized.
Symptoms
of Cystinosis:
- Excissive Thirst
- Excessive Urination
- Failure to Thrive
- Fanconi's Syndrome-Kidneys fail
to reabsorb essential nutrients. This results in
electrolyte disturbances, rickets, and growth retardation.
- Rickets
- Dehydration
- Nauses/Vomiting/GI Dysmobility/Reflux
- Elevated
Cystine Levels in White Blood Cells
- Cystine Crystals
on Cornea of Eyes
- Kidney Failure
Children usually display symptoms
and can be diagnosed by 9 months of age. Unfortunately,
many children are mis-diagnosed and suffer for years
or die before an appropriate diagnosis is made.
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