Niemann-Pick disease
Niemann-Pick disease (pronunciation: nee-mun pick) is a term that encompasses a group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The disease is named after Albert Niemann and Ludwig Pick, the two physicians who first described the condition in the early 20th century.
Etymology
The disease is named after Albert Niemann, a German pediatrician who first described the disease in 1914, and Ludwig Pick, a German pathologist who further developed the concept of the disease in the 1930s.
Types
Niemann-Pick disease is divided into four main types: Type A, Type B, Type C1, and Type C2.
- Niemann-Pick disease type A is a severe neurodegenerative disorder that begins in infancy and leads to death in early childhood.
- Niemann-Pick disease type B is a milder form that begins in childhood or adolescence and does not affect lifespan significantly.
- Niemann-Pick disease type C1 and C2 are characterized by impaired metabolism of cholesterol and other lipids and have a variable age of onset and course.
Symptoms
Symptoms of Niemann-Pick disease vary with each type but may include neurological problems, hepatosplenomegaly, dysphagia, and dementia.
Diagnosis
Diagnosis of Niemann-Pick disease involves clinical evaluation, detailed patient history, identification of characteristic physical findings, and a variety of specialized tests.
Treatment
There is currently no cure for Niemann-Pick disease. Treatment is symptomatic and supportive.
See also
References
External links
- Medical encyclopedia article on Niemann-Pick disease
- Wikipedia's article - Niemann-Pick disease
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