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About the disease Niemann Pick C

Niemann Pick C is an autosomal-recessive inherited metabolic disease that causes the body’s cholesterol to accumulate in various organs (spleen, liver, bone marrow, brain). It is also classified as a lipid storage disease. As a result of the excessive buildup in the cells, cell function is impaired so much that the cells die. The symptoms and progression of the disease can vary widely, depending on the extent to which different organs are affected. It is usually differentiated into early-childhood, youth, and adult forms. The disease first manifests with neurological symptoms, which generally cause death within the first three decades of life. Niemann-Pick C has not been extensively studied, and at present there is no cure.

In Switzerland there are currently eleven patients who have been diagnosed with Niemann-Pick C. More cases are being investigated. According to estimates, about 150,000 people are afflicted with Niemann-Pick C worldwide. Because the disease is autosomal-recessively inherited, both the father and mother must be carriers of the disease. The probability that a child will be born with it is 25 percent. The likelihood of a healthy child is therefore 75 percent, but two-thirds of all healthy children are carriers of the disease.

The disease was first described in 1914 by German pediatrician Albert Niemann. He reported a young child with impaired brain and nervous system function, as well as an enlarged liver and spleen. In the 1920s, Ludwig Pick did post-mortem tissue studies on such children and realized that this was a different disease from other previously described lipid storage diseases. In 1958, Crocker AC./Farber S. differentiated the disease into subtypes. The disease was originally differentiated into two types with differing progressions: A and B are distinguished by the lack of an enzyme, C by a failure to transport the body’s cholesterol. In types A and B the defective gene is located on chromosome 11; for type C there are two variations: mutations in the NPC1 gene on chromosome 18 or in the NPC2 gene on chromosome 14.

 

Familie Oetterli | Breiteichlimatt 2 | 6044 Udligenswil | This email address is being protected from spambots. You need JavaScript enabled to view it.

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