Cystinosis
Cystinosis
Cystinosis (pronounced sis-tin-OH-sis) is a rare, inherited metabolic disorder characterized by an accumulation of the amino acid cystine within cells, leading to various health problems and organ damage.
Etymology
The term "Cystinosis" is derived from the word "cystine", the amino acid that accumulates in the cells of individuals with this condition, and "-osis", a suffix used in medical terminology to denote a disorder or disease.
Definition
Cystinosis is a condition categorized as a lysosomal storage disorder, due to the accumulation of cystine in the lysosomes of cells. This accumulation is caused by mutations in the CTNS gene, which provides instructions for making a protein that transports cystine out of lysosomes.
Symptoms
The symptoms of Cystinosis can vary greatly depending on the type of the disease. The three main types are Nephropathic Cystinosis, Intermediate Cystinosis, and Non-nephropathic or Ocular Cystinosis.
Nephropathic Cystinosis, the most severe form, typically becomes apparent in infancy and may include poor growth and a particular type of kidney damage known as renal Fanconi syndrome.
Intermediate Cystinosis tends to become apparent in adolescence and also involves kidney damage.
Non-nephropathic or Ocular Cystinosis is the mildest form and primarily affects the eyes.
Diagnosis
Diagnosis of Cystinosis typically involves a combination of physical examination, review of medical and family history, and specific diagnostic tests. These tests may include blood and urine tests to measure cystine levels, genetic testing to identify mutations in the CTNS gene, and an eye examination to detect cystine crystals in the cornea.
Treatment
Treatment for Cystinosis is primarily aimed at managing symptoms and slowing the progression of the disease. This may involve medications to reduce cystine levels in the cells, nutritional support to address growth problems, and in severe cases, kidney transplantation.
Prognosis
The prognosis for individuals with Cystinosis varies depending on the type of the disease and the individual's response to treatment. With early diagnosis and appropriate management, many individuals with Cystinosis can lead productive lives.
See also
- Lysosomal storage disorders
- CTNS
- Nephropathic Cystinosis
- Intermediate Cystinosis
- Non-nephropathic or Ocular Cystinosis
- Renal Fanconi syndrome
External links
- Medical encyclopedia article on Cystinosis
- Wikipedia's article - Cystinosis
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