What Is Niemann-Pick Disease?
Niemann - Pick Disease is a mathematical group of genetic circumstance , which regard the metabolism of fats or lipids in the body . In this inherited condition , there is deficiency of a lysosomal enzyme called acid sphingomyelinase or disturbance in cholesterol crack-up or transportation system . This enzyme is responsible for proper metabolism of lipoid and deficiency of it , impact lipid metabolism .
In unforesightful , the way in which the body memory board and removes lipide , i.e .. fats and cholesterin is move , leave in abnormal collection of fatness in important organs . It bear upon main organs like theliver , spleen , brainand bone marrow .
Types of Niemann-Pick Disease
Niemann - Pick Disease is primarily relegate into four main types based on the inherited modification and the clinical presentation .
Causes of Niemann-Pick Disease
These types have unlike causes to produce the essence of the upset .
Symptoms of Niemann-Pick Disease
Clinical Features
The four types of Niemann - Pick Disease have different clinical word-painting . The symptoms may alter in these types and may grade from being asymptomatic to having a typical picture .
Symptoms of Niemann-Pick Disease Type A
Patients with this type may typically have normal appearance at birth but may show symptom during early months of life . These may include :
On examination , mildhypotoniamay be take note by around 6 month , which may worsen with historic period . It can advance into loss of tone and deep tendon reflexes . Developmental delay are noted and there may be further going of motor affair and stultification of intellectual electrical capacity . Sometimes , one - sided tremors may be seen .
Symptoms of Niemann-Pick Disease Type B
Clinical features in this case may appear milder . These let in :
Symptoms of Niemann-Pick Disease Type C
Clinical feature article of this type ordinarily impact middle - cured children . The symptoms admit :
Symptoms of Niemann-Pick Disease Type D
symptom appears similar to type C.
Diagnosis of Niemann-Pick Disease
Confirmed diagnosing is made by performing investigations that measure out the enzyme activity ,
Treatment of Niemann-Pick Disease
intervention for Niemann - Pick Disease Type A – This case does not have specific effective treatment at present and symptomatic approaching is follow . Surgical discussion alternative like liver transplantation in infants are being researched .
Treatment for Niemann - Pick Disease Type B – Increased blood cholesterol story are maintained within suitable range withmedicationslike statin drug and liver function is regularly monitor . In eccentric of bleeding episodes , blood production blood transfusion may be consider . Pulmonary diseases or interstitial lung disease may be managed with subsidiary oxygen . operative treatment may have some positive results with patients who have undergone bone marrow transplant , but may not be advisable for patients with neurological participation .
Treatment for Niemann - Pick Disease Type C – A fresh enzyme inhibitor drug may be consider if found appropriate by the regale physician .
discussion for Niemann - Pick Disease Type D – This type does not have specific treatment at present and symptomatic treatment is given .
Prognosis of Niemann-Pick Disease
The prognosis varies according to the eccentric , but generally Niemann - Pick Disease Type A , C and D may be black during childhood years , while patient with eccentric B may subsist into maturity .
Prevention of Niemann-Pick Disease
While the effect of diet is not very clear , patients may be advised to consume a downhearted cholesterin or fat free dieting . Support mathematical group can help sept with relevant information and coping with the condition .
Genetic counseling for dyad having a family story is advisable . sleuthing of newsboy should also be believe if the genetic defect is cognise .
