Renal

Question 1

What is the inheritance for Juvenile form of Polycystic Kidney Disease?

Answer 1

Autosomal recessive

Question 2

What are the symptoms of juvenile PKD?

Answer 2

• Worsening renal failure & HTN, newborn may present with Potter sequence
• Severe form presents like bilateral renal agenesis

Question 3

What is the gene associated with Juvenile PKD?

Answer 3

PKHD1

Question 4

What is the inheritance pattern for adult form of PKD?

Answer 4

Autosomal dominant

Question 5

What are the genes associated with adult form PKD?

Answer 5

mutation in PKD1 or PKD2 gene

Question 6

What is the inheritance pattern for Medullary Cystic Kidney Disease?

Answer 6

Autosomal Dominant

Question 7

What happens in Medullary Cystic Kidney Disease?

Answer 7

• Cysts in medullary collecting ducts

- Parenchymal fibrosis results in shrunken kidneys and worsening renal failure

Question 8

How does renal papillary necrosis present?

Answer 8

Presents with gross hematuria and flank pain

Question 9

What causes Renal papillary necrosis?

Answer 9

Analgesic Nephropathy (chronic analgesic abuse)

Long term aspirin use

Question 10

What can Renal Papillary Necrosis lead to?

Answer 10

Increased risk for transitional cell carcinoma.

Also, papillary damage leads to inability to dilute urine/secrete acid, leading to metabolic acidosis

Question 11

Difference between Nephrotic and Nephritic?

Answer 11

Nephrotic is >3.5g proteinuria, Nephritic is less proteinuria, more hematuria

Question 12

What is the most common cause of nephrotic syndrome in Caucasian adults?

Answer 12

Membranous Nephropathy

Question 13

What is seen on H&E with Membranous Nephropathy?

Answer 13

Thick glomerular basement membrane, due to deposition of IgG + C3 deposition.

Question 14

Type 1 MPGN is associated with?

Answer 14

HBV and HCV, Lupus, and Subacute bacterial endocarditis

Question 15

Acute Proliferative Glomerulonephropathy is otherwise known as?

Answer 15

Post-Streptococcal Glomerulonephritis

Question 16

What are common associations with PSGN?

Answer 16

Arises after Group A b-hemolytic strep infection, presents 2-3 weeks after infection

Question 17

What is seen on a molecular level with PSGN?

Answer 17

Hypercellular, inflamed glomeruli, mediated by immune complex deposition

“subepitelial humps” on EM is hallmark of PSGN

Question 18

What other infection commonly follows a group A strep infection?

Answer 18

HSP

Question 19

IGA immune complex deposition in mesangium is seen in…?

Answer 19

Berger Disease (IgA nephropathy)

Question 20

What is the presentation of Childhood HUS?

Answer 20

Children who have flu-like prodrome w/hematemesis, melena, and hematuria

Question 21

What causes childhood HUS?

Answer 21

Ingestion of enterohemorrhagic E. coli typically from undercooked ground beef. Contains shiga-like toxin

Question 22

How does Adult HUS present?

Answer 22

Hematuria and Uremia that follows infection, lupus, Wegner’s, or even pregnancy

Question 23

What is Idiopathic HUS linked to?

Answer 23

ADAMTS13gene (platelet aggregation)

Question 24

What is Renal Cell Carcinoma?

Answer 24

A malignant epithelial tumor arising from kidney tubules

Question 25

How does RCC present?

Answer 25

Palpable mass + hematuria + flank pain May present with left sided varicocele (bag of worms)

Question 26

What are systemic symptoms of RCC?

Answer 26

Fever, weight loss, paraneoplastic syndrome. EPO (polycythemia)

Question 27

What does RCC look like in histo?

Answer 27

Clear cells

Question 28

What is the route of metastasis for RCC?

Answer 28

Renal vein to lung and bone

Question 29

What is WAGR syndrome?

Answer 29

Wilms Tumor Aniridia (absence of iris) Genital Abnormalities Retardation

Question 30

What is a Wilms tumor?

Answer 30

Malignant tumor composed of blastema. Most common malignant renal tumor in children

Question 31

What mutation causes Wilms tumors?

Answer 31

Caused by WT1 gene mutation

Question 32

What is a urothelial carcinoma?

Answer 32

Malignant tumor arising from urothelial lining of renal pelvis, ureter, bladder, or urethra. Most common type of LUT cancer, usually arises in bladder

Question 33

What are the risk factors for Urothelial Carcinoma

Answer 33

Number 1 is cigarette smoke

Question 34

What is the flat growth pathway causing Urothelial Carcinoma?

Answer 34

Starts high grade -> invades Associated with early p53 mutations. PUNLMP (papillary urothelial neoplasm of low malignant potential) and it is a CIS

Question 35

What gene mutation causes Urothelial Carcinoma?

Answer 35

Chrom 9 deletions/monosomy (p16/INKA4 gene) or 17p deletions (p53 gene)

Question 36

What is the papillary growth pathway for Urothelial Carcinoma?

Answer 36

Starts low grade -> HG -> invades

Question 37

Pizz genotype is associated with...?

Answer 37

Severe alpha-1 antitrypsin deficiency, leading to secondaryr Membranoproliferative glomerulonephropathy

Question 38

What lab level is typical of choriocarcinomas?

Answer 38

High hCG