Renal Pathology Practice Questions

Q: Which chromosome is associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

Chromosome 16. **Explanation:** **Autosomal Dominant Polycystic Kidney Disease (ADPKD)** is the most common inherited cystic kidney disease [1]. It is characterized by the progressive formation of bilateral renal cysts that eventually lead to end-stage renal disease (ESRD). **1. Why Option C is Correct:** ADPKD is genetically heterogeneous, caused by mutations in two primary genes: * **PKD1 Gene (85% of cases):** Located on **Chromosome 16p13.3**. It encodes the protein **Polycystin-1**. This form is typically more severe, with an earlier onset of renal failure (mean age ~54 years). * **PKD2 Gene (15% of cases):** Located on **Chromosome 4q21**. It encodes **Polycystin-2**. This form progresses more slowly (mean age of ESRD ~74 years). Since Chromosome 16 accounts for the vast majority of cases, it is the most significant association. **2. Why Other Options are Incorrect:** * **Options A, B, and D:** These options include **Chromosome 14**, which is not associated with ADPKD. Chromosome 14 is linked to conditions like Alpha-1 antitrypsin deficiency or certain lymphomas (t14;18). **Chromosome 13** is associated with Wilson’s disease and Retinoblastoma (RB1 gene). **3. High-Yield Clinical Pearls for NEET-PG:** * **Extra-renal Manifestations:** The most common extra-renal site for cysts is the **Liver** (Polycystic Liver Disease). * **Vascular Association:** **Berry Aneurysms** in the Circle of Willis are a high-yield association; rupture leads to Subarachnoid Hemorrhage (SAH). * **Other Associations:** Mitral Valve Prolapse (MVP), diverticulosis, and pancreatic cysts. * **Morphology:** Kidneys are massively enlarged (palpable) with a "multicystic" appearance and no intervening normal parenchyma [1]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Kidney, pp. 954-955.

Q: Autosomal recessive polycystic kidney disease is characterized by the altered expression of:

Fibrocystin. **Explanation:** **Autosomal Recessive Polycystic Kidney Disease (ARPKD)** is a hereditary ciliopathy primarily affecting children. The correct answer is **Fibrocystin** because ARPKD is caused by mutations in the **PKHD1 gene** (located on chromosome 6p), which encodes the protein Fibrocystin [1]. This protein is localized to the primary cilia of epithelial cells in the renal collecting ducts and bile ducts, where it regulates cell proliferation and adhesion [1]. **Analysis of Options:** * **Polycystin (A):** Mutations in *Polycystin-1* (PKD1) or *Polycystin-2* (PKD2) cause **Autosomal Dominant Polycystic Kidney Disease (ADPKD)**, which typically presents in adults [1]. * **Nephrocystin (B):** Mutations in the *NPHP* gene family encoding Nephrocystins lead to **Nephronophthisis**, a common cause of end-stage renal disease in children characterized by corticomedullary cysts. * **Uromodulin (C):** Mutations in the *UMOD* gene lead to **Medullary Cystic Kidney Disease Type 2** (now termed Autosomal Dominant Tubulointerstitial Kidney Disease), often associated with hyperuricemia and gout. **High-Yield Clinical Pearls for NEET-PG:** * **Morphology:** ARPKD kidneys show a "sponge-like" appearance with **cylindrical/fusiform dilatation** of collecting ducts. * **Liver Involvement:** ARPKD is universally associated with liver abnormalities, specifically **Congenital Hepatic Fibrosis** and biliary hamartomas (Von Meyenburg complexes). * **Potter Sequence:** Severe cases present in utero with oligohydramnios, leading to pulmonary hypoplasia, flattened facies, and clubfeet. * **Imaging:** On ultrasound, kidneys appear enlarged and echogenic bilaterally. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Kidney, pp. 952-953.

Question 1

Urine analysis of a patient with hematuria and glomerulonephrosis shows:

Accepted Answer

Isomorphic red cells

Answer

Red cell casts

Answer

WBC casts

Answer

Hyaline casts

Question 2

Necrotizing papillitis is a feature in all of the following conditions except?

Accepted Answer

Tuberculous pyelonephritis

Answer

Sickle cell disease

Answer

Diabetes mellitus

Answer

Analgesic nephropathy

Question 3

Which chromosome is associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

Accepted Answer

Chromosome 16

Answer

Chromosomes 14 and 16

Answer

Chromosomes 14 and 13

Answer

Chromosomes 16 and 14

Question 4

Which of the following is associated with Renal Papillary Necrosis?

Accepted Answer

Alcohol

Answer

Heroin

Answer

Morphine

Answer

Tramadol

Question 5

Which of the following is true about minimal change disease?

Accepted Answer

It is a common cause of nephrotic syndrome in children

Answer

Foot process effacement is seen on electron microscopy

Answer

IgA deposits are present on immunofluorescence

Answer

Serum complement levels are typically normal

Question 6

Mercury primarily affects which part of the kidney?

Accepted Answer

Proximal convoluted tubule (PCT)

Answer

Distal convoluted tubule (DCT)

Answer

Collecting duct

Answer

Loop of Henle

Question 7

Which of the following sequelae occurs in Schistosomiasis of the bladder?

Accepted Answer

Squamous cell carcinoma

Answer

Adenocarcinoma

Answer

Lymphoma

Answer

Sarcoma

Question 8

A 58-year-old diabetic patient presents with hypertension and frothiness in the urine, with evidence of proteinuria. Renal biopsy demonstrated characteristic lesions of diabetic nephropathy. Which of the following is the most likely diagnosis?

Accepted Answer

Nodular glomerulosclerosis

Answer

Diffuse glomerulosclerosis

Answer

Basement membrane thickening

Answer

Crescentic glomerulonephritis

Question 9

Autosomal recessive polycystic kidney disease is characterized by the altered expression of:

Accepted Answer

Fibrocystin

Answer

Polycystin

Answer

Nephrocystin

Answer

Uromodulin

Question 10

Which of the following is associated with anti-glomerular basement membrane antibody?

Accepted Answer

Goodpasture's syndrome

Answer

IgA nephropathy

Answer

Membranous glomerulonephritis

Answer

Membranoproliferative glomerulonephritis

Renal Pathology — MCQs

Renal Pathology — MCQs

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