Nephropathic cystinosis
Nephropathic cystinosis (pronounced: neh-fro-path-ik sis-tin-oh-sis) is a rare, inherited metabolic disorder that affects the kidneys and other organs. It is characterized by the accumulation of the amino acid cystine within cells, leading to cell death and organ dysfunction.
Etymology
The term "nephropathic cystinosis" is derived from the Greek words "nephros" (kidney), "pathos" (disease), and "cystinos" (cystine).
Symptoms
The symptoms of nephropathic cystinosis typically begin in infancy and may include poor growth, loss of appetite, vomiting, increased thirst and urination, and a particular sensitivity to light (photophobia). Over time, untreated nephropathic cystinosis can lead to kidney failure, muscle wasting, difficulty swallowing, diabetes, and other serious health problems.
Causes
Nephropathic cystinosis is caused by mutations in the CTNS gene, which provides instructions for making a protein that transports cystine out of cells. When this gene is mutated, cystine accumulates in cells and forms crystals that can damage tissues and organs.
Diagnosis
Diagnosis of nephropathic cystinosis is typically made through a combination of clinical examination, laboratory testing (including measurement of cystine levels in white blood cells), and genetic testing.
Treatment
Treatment for nephropathic cystinosis typically involves managing the symptoms and slowing the progression of the disease. This may include medications to reduce cystine levels in the cells, nutritional support, and in some cases, kidney transplantation.
Related Terms
External links
- Medical encyclopedia article on Nephropathic cystinosis
- Wikipedia's article - Nephropathic cystinosis
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