Kidney diseases — Flashcards

Flashcard 1: What pathology is associated with a defective PAX3 gene?

Answer: Waardenburg syndrome (Type 1 and 3/Klein-Waardenburg)

Flashcard 2: The nephrotoxicity caused by calcineurin inhibitors can result in histologic findings that include early arteriolar hyalinization and tubular _____

Answer: vacuolization

Flashcard 3: Nephritic syndrome occurs due to _____ disruption

Answer: GBM

Flashcard 4: Which type of cast is classically seen in glomerulonephritis and hypertensive emergency? _____

Answer: RBC casts

Flashcard 5: Nephrotic syndrome may be caused by systemic _____

Answer: amyloidosis

Flashcard 6: Nephritic syndrome may lead to hematuria and _____ casts in the urine

Answer: RBC

Flashcard 7: A '_____' glomerular disorder is characterized by thickening of the glomerular basement membrane

Answer: membranous

Flashcard 8: Acute interstitial nephritis may progress to renal _____ necrosis

Answer: papillary

Flashcard 9: Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) has the potential to present with cysts in the _____

Answer: medullary collecting ducts

Flashcard 10: 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.*