Gunther disease
Gunther Disease
Gunther disease, also known as Congenital Erythropoietic Porphyria (pronunciation: /kənˈdʒɛnɪtəl ˌɛrɪθroʊpoʊˈɪtɪk pɔːrˈfɪriə/), is a rare autosomal recessive disorder characterized by the buildup of porphyrins in the body. The disease is named after Hans Gunther, a German dermatologist who first described the condition in 1911.
Etymology
The term "Gunther disease" is derived from the name of the German dermatologist Hans Gunther, who first described the condition. The term "Congenital Erythropoietic Porphyria" is derived from the Greek words "kongenitalis" meaning "from birth", "erythropoietic" meaning "related to the production of red blood cells", and "porphyria" meaning "purple pigment", referring to the purple-colored compounds that build up in the body of a person with this condition.
Symptoms
Symptoms of Gunther disease include photosensitivity, anemia, and changes in the color of urine and feces. The disease can also cause damage to the skin and eyes, and in severe cases, it can lead to disfigurement and blindness.
Diagnosis
Diagnosis of Gunther disease is typically made through a combination of clinical examination and laboratory testing. This may include blood tests, urine tests, and genetic testing to identify mutations in the UROS gene, which is associated with the disease.
Treatment
Treatment for Gunther disease is primarily aimed at managing symptoms and preventing complications. This may include avoiding sunlight, blood transfusions, and in severe cases, bone marrow transplantation.
Related Terms
External links
- Medical encyclopedia article on Gunther disease
- Wikipedia's article - Gunther disease
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