Pathoma 12.1 -Kidney and Urinary: Congenital defects

Question 1

What is the MC congenital renal anmolay

Answer 1

Horshoes kidney

Question 2

Where are horshoe kidneys usually located

Answer 2

lower abdomen

Question 3

What do the horshoe kidneys get stuck on

Answer 3

the Inferior Mesenteric Artery

Question 4

Unilateral Renal Agenesis leads to what in the other kidney (3)

Answer 4

hypertrophy

hyperfiltration–> renal failure later in life

Question 5

Bilateral renal agenesis leads to what condition?

Answer 5

Oligohydramnios

Question 6

Oligohydramnios leads to what Sequence and it’s 3 sequlae

Answer 6

Potters sequence:

1. lung hypoplasia
2. low set ears and flat face
3. defects of lower extremities

Question 7

Name the 1 non-inherited and 2 inherited congenital kidney malformations

Answer 7

Non-inherited: Dysplastic Kidney

Inherited: PKD, Medullary Cystic Kidney Disease

Question 8

Dysplastic Kidney contains what abnormal tissue and what other formation?

Answer 8

Cysts and cartilage

Question 9

If dysplastic kidney is bilateral what must it be distinguished from? How is it distinguished

Answer 9

pkd

Distinguished by fHx, enlargement in PKD

Question 10

Two major differences between PKD and medullary Cystic Kidney Disease

Answer 10

PKD: Enlarged Kidneys, cysts in cortex and medulla

Medullary CKD: shrunken kidneys, cysts in medullary collecting ducts

Question 11

Newborns with AR PKD may present how

Answer 11

with Potters Sequence

Question 12

Infants with AR PKD present how (2)

Answer 12

hypertension, worsening renal failure

Question 13

What 2 things is AR PKD associated with?

Answer 13

Congential Hepatic fibrosis

Hepatic cysts

Question 14

Congenital Hepatic fibrosis leads to what

Answer 14

portal hypertension

Question 15

What is the difference in presentation between AD and AR forms of PKD

Answer 15

AD- presents in ADults

AR- presents in infants

Question 16

What is the difference in cysts locations in AR and AD forms of PKD

Answer 16

AR- cysts in kidney and liver

AD- cysts in kidney, liver, brain

Question 17

What 3 ways does AD PKD present?

Answer 17

hypertension (due to increased renin)
hematuria
worsening renal failure

Question 18

What 3 things is AD form of PKD associated with?

Answer 18

1. berry aneurysm
2. hepatic cysts
3. mitral valve prolapse

Question 19

What 2 mutations cause AD PKD

Answer 19

APKD1 or APKD2 genes

Question 20

Which associated condition of AD form of PKD can cuase death

Answer 20

berry aneurysm

Question 21

“baby with portal HTN” = what dx?

Answer 21

AR PKD

Question 22

“Family Hx of renal disease and brain hemorrhage” = what dx?

Answer 22

AD PKD

Question 23

Is medullary CKD inherited?

Answer 23

yes

Question 24

What is pattern of inheritance of MCKD

Answer 24

AD

Question 25

Where are cysts found in MCKD

Answer 25

medullary collecting ducts

Question 26

parenchymal fibrosis in MCKD results in what 2 things

Answer 26

shrinken kidneys and worsening renal failure