Q- Gaucher disease is a genetic disorder that may cause hepatomegaly and splenomegaly. It is caused by a deficiency of which one of the following enzymes?
A- Alpha-galactosidase
B- Glucocerebrosidase
C- Hexosaminidase A
D- Sphingomyelinase
B- Glucocerebrosidase- Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. This enzyme helps break down glucocerebroside, a fatty substance. Without enough glucocerebrosidase, glucocerebroside builds up in certain cells, causing them to enlarge and accumulate in organs like the spleen, liver, and bone marrow.
Q- Which one of the following is the most effective treatment for a case of Fabry disease?
A- Antibiotic therapy
B- Antiviral therapy
C- Enzyme replacement therapy
D- Radiation therapy
C- Enzyme replacement therapy- Fabry disease is caused by a lack of the enzyme alpha-galactosidase A. This leads to the buildup of a fatty substance in the body’s cells, causing symptoms like pain, kidney problems, and heart issues. The most effective treatment is enzyme replacement therapy (ERT). ERT involves giving patients regular infusions of the missing enzyme, which helps reduce the buildup of the fatty substance and improves symptoms.
Q- Which of the following is the main risk factor for developing adenocarcinoma of the lower part of the esophagus?
A- Chronic alcohol abuse
B- Chronic gastrointestinal reflux disease (GERD)
C- Use of NSAID
D- Vitamin B12 deficiency
B- Chronic gastrointestinal reflux disease (GERD)-It is the main risk factor for developing adenocarcinoma of the lower part of the esophagus. GERD causes stomach acid to frequently flow back into the esophagus, which can damage its lining. Over time, this damage can lead to Barrett’s esophagus, which increases the risk of developing esophageal adenocarcinoma.
