Bone and joint pathology — Flashcards

Flashcard 1: Chronic gout may lead to _____ due to deposition of urate crystals in kidney tubules (urate nephropathy)

Answer: renal failure

Flashcard 2: Osteopetrosis is characterized by diffuse, symmetric skeletal _____ on X-ray

Answer: sclerosis

Flashcard 3: What MSK pathology is characterized by a reduction in trabecular and cortical bone mass and interconnections? _____

Answer: Osteoporosis

Flashcard 4: What is the third stage of Paget disease of bone (osteitis deformans)? _____

Answer: Osteoblastic (sclerotic)

Flashcard 5: Osteoporosis can lead to _____ compression fractures, which result in loss of height and kyphosis

Answer: vertebral

Flashcard 6: Paget disease of bone may present with "_____ facies" due to involvement of craniofacial bones

Answer: lion-like

Flashcard 7: What MSK pathology is characterized by thick, heavy bone that fractures easily due to imbalance of osteoblast and osteoclast function? _____

Answer: Paget disease of bone (osteitis deformans)

Flashcard 8: Osteogenesis imperfecta is characterized by multiple recurrent _____ with minimal trauma

Answer: fractures

Flashcard 9: What is the enzyme deficiency and accumulated substrate in Niemann-Pick disease?

Answer: Lysosomal storage disease caused by a deficiency in sphingomyelinase, leading to accumulation of sphingomyelin.

Extra: • Clinical Features: Progressive neurodegeneration, hepatosplenomegaly, and cherry-red spot on macula. • Pathology: Foam cells (lipid-laden macrophages) are characteristic. • Genetics: Autosomal recessive (AR). • Population: Increased frequency in Ashkenazi Jews. *Distinction: Unlike Tay-Sachs, Niemann-Pick presents with hepatosplenomegaly.*

Flashcard 10: Gaucher's disease

Answer:

Extra: accumulation of glucocerebrosidehepatosplenomegaly, aseptic necrosis of femur, bone crisescrumpled-paper cells Ashkenazi JewARglucocerebrosidase