Congenital

Question 1

What is a Horseshoe Kidney?

Answer 1

Conjoined kidneys usually connected at the lower pole

Question 2

What is the most common congenital renal anomaly?

Answer 2

Horseshoe Kidney

Question 3

Where are Horseshoe kidney’s located? What do they get caught on?

Answer 3

• Kidney is abnormally located in lower abdomen

- Get caught on the inferior mesenteric artery root during ascent from the pelvis to the abdomen

Question 4

What is Renal Agenesis?

Answer 4

Absent kidney formation

-May be unilateral or bilateral

Question 5

What does Unilateral Renal Agenesis cause?

Answer 5

• Hypertrophy of the existing kidney

- Hyperfiltration (doing the work of two kidneys) increases risk of renal failure later in life

Question 6

What does Bilateral Renal Agenesis cause?

Answer 6

-It leads to oligohydraminos with lung hypoplasia, flat face, low set ears and developmental defects of extremities (Potter Sequence)

Question 7

Is Bilateral Renal Agenesis compatible with life?

Answer 7

NO

Question 8

What is a Dysplasic Kidney?

Answer 8

NONINHERITED, congenital malformation of the renal parenchyma

Question 9

What is a dysplastic kidney characterized by?

Answer 9

Cysts and abnormal tissue

Question 10

Is a Dysplastic kidney usually unilateral or bilateral?

Answer 10

• Usually unilateral

- When bilateral, must be distinguished from inherited polycystic kidney disease (often on exams!)

Question 11

What is polycystic kidney disease (PKD)?

Answer 11

Inherited defect leading to bilateral enlarged kidneys with cysts in renal cortex and medulla

Question 12

What are the two genetic forms of PKD?

Answer 12

1. Autosomal recessive

2. Autosomal dominant

Question 13

What does autosomal recessive PKD present with? What populations is it seen in?

Answer 13

• Infants with worsening renal failure and hypertension
• Newborns may present with Potter sequence –> it’s like they don’t have any kidneys because the kidneys aren’t functional

Question 14

What pathological findings are associated with autosomal recessive PKD?

Answer 14

Congenital hepatic fibrosis (leads to portal hypertension _ and hepatic cysts
[So overall: cysts in liver –> fibroblasts & cysts in kidneys]

Question 15

What does autosomal dominant PKD present with? What populations is it seen in?

Answer 15

-Young adults with hypertension (due to increased renin), hematuria, and worsening renal failure.

Question 16

What features are associated with autosomal dominant PKD?

Answer 16

• Berry aneurysm
• Hepatic cysts
• Mitral valve prolapse

Question 17

What mutation cases autosomal dominant PKD?

Answer 17

Mutation in APKD1 or APKD2 gene

Question 18

How do the cysts develop in autosomal dominant PKD?

Answer 18

Over time

Question 19

Where are the “cysts” in autosomal dominant PKD?

Answer 19

• Kidney
• “Brain”
• Liver

Question 20

What is Medullary Cystic Kidney Disease?

Answer 20

Inherited (autosomal dominant) defect leading to cysts in the medullary collecting ducts

Question 21

What pathology is associated with Medullary Cystic Kidney Disease?

Answer 21

Parenchymal fibrosis which results in shrunken kidneys and worsening renal failure.