| |
Niemann-Pick Disease - Niemann-Pick Disease Symptom, Cause, Treatment
Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain. The diseases strike with devastating consequences and without warning, leaving families bewildered as to why this has happened to them. To add to their grief, the onset of disease symptoms is often delayed for many years and other children, born previously or subsequently, may also have inherited the disease.
Symptoms of Niemann-Pick Disease
There are four variants of Niemann-Pick disease based on the genetic cause and the symptoms exhibited by the patient. All variants are inherited in an autosomal recessive pattern. Occurs in five clinically distinguishable phenotypes. Type A(Niemann): severe infantile form; type B (Pick): visceral or chronic from; type C: the subacute or juvenile type; type D: Nova Scotia (also called Crocker-Farber syndrome), and type e) adult non-neuronopathic.
Causes of Niemann-Pick Disease
Niemann-Pick disease is inherited. It is an autosomal recessive trait, which means that both parents must carry the abnormal gene for their child to inherit the disease. The exact cause depends on the type of Niemann-Pick disease. Mutations in the SMPD1 gene cause Niemann-Pick disease, types A and B. This gene carries instructions for cells to produce an enzyme called acid sphingomyelinase .
Treatment of Niemann-Pick Disease
No specific treatment is available for patients with any NPD subtypes, and treatment is symptomatic.
- Orthotopic liver transplantation in an infant with type A disease and amniotic cell transplantation in several patients with type B disease have been attempted with little or no success.
- Bone marrow transplantation in a patient with NPD type B was successful in reducing spleen and liver volumes, the sphingomyelin content of the liver, the number of Niemann-Pick cells in the marrow, and infiltration of the lungs detected radiologically. However, no long-term information is available because the patient died 3 months after transplantation.
- To date, lung transplantation has not been performed in any patient with type B disease who was severely compromised.
- Future prospects for treatment of patients with NPD type B include enzyme replacement and gene therapies.
- No specific treatment exists for patients with type A disease. Some patients have undergone stem cell transplantation
- patients may have massive splenomegaly, splenectomy should be avoided whenever possible because removal of the spleen is accompanied by deterioration of pulmonary status, which is caused by increased storage of sphingomyelin in the lung parenchyma.
|
|
|
