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Niemann-Pick Type C 

Niemann-Pick Type C (NP-C) it is a genetic disease neurologic, progressive, serious and rare. This summary was written to help it to understand more on NP-C, and to recognize some of the characteristics of disease.  

Symptoms of Niemann-Pick Tipo C  

A person with NP-C usually has some obvious symptoms. Almost whole people with NP-C have an increased liverand/or spleen. This can be noticed soon to the birth, in some cases, even so, increase of the liver spleen and doesn't happen for months or years. The increase of the liver and/or of the spleen is inside associated with the abnormal progressive accumulation of material gorduroso, and cholesterol of the cells. 
Neurological deterioration is the main symptom of NP-C. Neurological problems in the patients with NP-C include: loss of the muscular tono, difficulty in the motive coordination, balance loss, usually speaks slow and inarticulate. It lacks of movement in the eyes upward and down. 

Difficulties in the learning and the progressive intellectual's decline are expected. A person with NP-C can be slow to learn  new habilities .  

Other neurological problems that can happen in the progress of the disease they include attacks. The neurological symptoms are progressive, and they are worse with time. In the final phases, the child is generally abed, she has small movement control.  

NP-C is a genetic disease. So that the disease is inherited, both parents should be the carriers of the affected gene that it causes the disease, and both parents have to pass the gene affected for the child. When both parents are carriers for NP-C, there are a 1 in 4 chances (25%) in each pregnancy, of both parents to pass the gene affected for their child. 

As I Diagnose it of NP-C it is do?  

Until recently, it was difficult to do a I diagnose conclusive of NP-C. A laboratory test was developed to discover the abnormal cholesterol that is processed in grown fibroblastos of samples of people's skin with NP-C. Then, a I diagnose definitive of NP-C it can be done now, through a history, physical exam, biopsy of bony medulla or of liver, and testing the cholesterol that is processed in the cell of pessoa. NP-C can also be discovered in a baby before being born. 

What the Time of life of a Person with Niemann-Pick Type C?  

It is difficult to predict the time of a person's life with NP-C. The age that the first neurological symptoms and the deterioration rate happen can be the only tracks. Studies of some cases of the disease show that the more early go the neurological, faster symptoms it is the rate of subsequent deterioration. For example, a baby that has loss of the muscular tônus, and he/she has delay in the ( to speak, to catch objects...), before a year of age he/she cannot live to the school age. A child that doesn't show any neurological symptom even school age, he/she can live until the middle of the adolescence, and some children survive up to twenty years. There are also some diagnosed cases where I begin it of the disease it doesn't happen to younger. It is then quite difficult of predicting I fear it of the life.  


What Makes NP-C to be Different from the Other Types of Niemann-Pick?  

In the types THE and B the beginning problem in the body is a deficiency of an enzyme call " sphingomyelinase " that produces a material gorduroso called sphingomyelina ". When sphingomyelina cannot be destroyed, in the types THE and B, she is stored in several organs of the body. In contrast, the cholesterol is the main  stored in NP-C, instead of sphingomyelina. Cholesterol inside of the cells it is used usually to build the cell, or it is chained in a called of éster form. In the an individual's case with NP-C, there are great cholesterol quantities that it is not used as a construction material and it doesn't also form ésteres. This cholesterol is accumulated inside of the cells along the body: but specifically in the spleen, in the liver, in the bony medulla and in the nervous system. The cholesterol accumulation is responsible for the development of the symptoms .  



What can Be made for the Person with Niemann-Pick Type C?  

Now, there is not any well-known cure for NP-C. There also is not any effective treatment. Even so the defective gene for NP-C pelo  was discovered National institute of Health (NIH), in the USA in July of 1996. Finding the genes the investigators can find a treatment or the cure and also to develop a test for carriers .  

 Nos EUA, laboratories and NIH now study affected cells of NP-C in the presence of a specific protein (LDL) that usually takes cholesterol in the blood. This incited a study to know the cholesterol control it can minimize or it can put back the symptoms of the disease. A current treatment is aimed to minimize the cholesterol quantity in the body. Other therapeutic measures are being considered, and in the laboratories the clinical researches continue progressing. To obtain more information on NP-C it visits