Free Questions and Answers for All Medical Students all over the World
11 USMLE Pathology, Hematology and Genetics Quick Review Questions with Answers (Set 8)
These 11 quick USMLE review questions test high-yield facts that show up again and again on the exam: IgA nephropathy, Lesch-Nyhan syndrome, Peutz-Jeghers syndrome, Gaucher and Fabry disease, gastric adenocarcinoma, Wilson disease, Rett syndrome, serum vs plasma, vitamin A and Crohn disease. Each question includes the correct answer.
Written by Dr. Ray Makar, MD, author of the Repeated USMLE Questions eBook series.
A- Mesangial dense deposits- In Berger’s disease, also known as IgA nephropathy, the characteristic pathological finding on renal biopsy is mesangial dense deposits. These deposits consist of IgA immune complexes primarily located in the mesangial area of the glomeruli.
The correct answer is A
Question 2. Which of the following conditions is characterized by intellectual disability, self-mutilating, and gout in a young boy?
A-Lesch-Nyhan syndrome- It is a rare genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme deficiency leads to the overproduction of uric acid, resulting in gout. The syndrome is also associated with neurological and behavioral abnormalities, including intellectual disability and self-mutilating behaviors such as biting of the lips and fingers.
The correct answer is A
Question 3. Which one of the following conditions is characterized by hamartomatous gastrointestinal polyps and hyperpigmentation of mouth, feet, hands, and genitalia?
D-Peutz-Jeghers syndrome- It is a genetic disorder that predisposes individuals to the development of distinctive pigmented spots on the skin and mucous membranes and hamartomatous polyps in the gastrointestinal tract. These polyps can cause various gastrointestinal symptoms and increase the risk of gastrointestinal cancers.
The correct answer is D
Question 4. 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.
The correct answer is B
Question 5. Which one of the following is the most effective treatment for a case of Fabry disease?
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.
The correct answer is C
Question 6. 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 NSAIDs
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.
The correct answer is B
Question 7. Which of the following conditions is characterized by the formation of golden-brown rings around the peripheral cornea?
D- Wilson’s disease- It is a genetic disorder that causes copper to accumulate in the body. This can lead to the formation of golden-brown rings around the cornea, known as Kayser-Fleischer rings.
The correct answer is D
Question 8. A 6-month-old girl had slow head growth, truncal discoordination and decreased social interaction. Which of the following is the most likely diagnosis?
B- Rett Syndrome- It typically manifests in females (it is X-linked dominant) and commonly becomes apparent around 6–18 months of age. One of the hallmark signs of Rett syndrome is a slowing of head growth (leading to a smaller head circumference over time). Infants may show truncal discoordination and loss of purposeful hand movements, often replaced by stereotypic hand-wringing (though the question focuses on truncal discoordination).
After initially normal development, children with Rett syndrome often experience loss of social engagement and regression in language skills.
The correct answer is B
Question 9. You have 2 containers one has a sample of serum and the other has a sample of plasma. Which one of the following substances would specify the sample of plasma?
B- Fibrinogen- Plasma is the liquid portion of blood that remains after the blood has been allowed to clot and the clot has been removed. It contains clotting factors such as fibrinogen. Serum, on the other hand, is the liquid portion of blood that remains after clotting has occurred but without the clotting factors.
Therefore, the presence of fibrinogen in the sample would specify that it is plasma. Erythrocytes, granulocytes, and serotonin are not exclusive to plasma and can be found in both plasma and serum samples.
The correct answer is B
Question 10. Which one of the following vitamins can be synthesized from a dietary source?
A- Vitamin A
B- Vitamin B1
C- Vitamin B6
D- Vitamin C
A- Vitamin A can be synthesized from dietary sources such as carrots, sweet potatoes, and spinach. The human body can convert beta-carotene into retinol, the active form of Vitamin A. Other vitamins can be obtained from dietary resources but are not synthesized by the human body. The body does not synthesize vitamin C due to the lack of gluconolactone oxidase in humans, while it is found in some animals.
The correct answer is A
Question 11. Which of the following is a characteristic feature of Crohn’s disease?
A- Skip lesions
B- Continuous involvement of the rectum
C- Presence of pseudomembranes
D- Eosinophilic infiltration in the colon
A-Skip lesions- One characteristic feature of Crohn’s disease is the presence of “skip lesions,” which means that inflammation can occur in segments with healthy tissue in between. This contrasts with conditions like ulcerative colitis, another form of IBD, where inflammation typically involves continuous areas of the colon and rectum.
The correct answer is A
High-yield points from this set
IgA nephropathy shows mesangial IgA deposits.
Peutz-Jeghers: hamartomatous polyps and mucocutaneous pigmentation.
Gaucher disease = glucocerebrosidase deficiency; Fabry disease is treated with enzyme replacement.