np Flashcards
What is Niemann-Pick disease?
A genetic disorder that affects lipid metabolism, leading to the accumulation of sphingomyelin in various organs.
Niemann-Pick disease is primarily associated with which type of genetic inheritance?
Autosomal recessive inheritance.
What are the two main types of Niemann-Pick disease?
Type A and Type B.
Which enzyme is deficient in Niemann-Pick disease Type A?
Sphingomyelinase.
True or False: Niemann-Pick disease Type A typically presents in infancy.
True.
What is a common symptom of Niemann-Pick disease Type A?
Hepatosplenomegaly.
Fill in the blank: Niemann-Pick disease can lead to _____ dysfunction.
Neurological.
What is the life expectancy for individuals with Niemann-Pick disease Type A?
Usually less than 3 years.
Which type of Niemann-Pick disease has a later onset and a milder course?
Type B.
True or False: Niemann-Pick disease Type B is associated with neurological symptoms.
False.
What is a key laboratory finding in Niemann-Pick disease?
Elevated levels of sphingomyelin in the blood and tissues.
What is the role of the NPC1 and NPC2 proteins in Niemann-Pick disease?
They are involved in intracellular cholesterol transport and are associated with Niemann-Pick disease Type C.
What is a common imaging finding in Niemann-Pick disease?
Hepatic enlargement seen on ultrasound or CT.
Which organ is primarily affected in Niemann-Pick disease?
Liver.
What type of therapy is currently available for Niemann-Pick disease?
There is no cure; management is supportive and symptomatic.
