Pathoma Congenital

Question 1

Horshoe Kidney

Answer 1

Conjoined kidney usually at lower portion. Most common congenital abnormality of the kidney

Question 2

Where is a horshoe kidney and why is it there?

Answer 2

Lower abdomen, it stops at the IMA because during development, as it is rising, it cannot get past this point anatomically. Remember that the kidneys start in the pelvis and move up.

Question 3

Renal agenesis

Answer 3

Abscence of kidney formation, can be uni or bilateral

Question 4

Unilateral agenesis leads to what?

Answer 4

Hypertrophy of existing kidney and hyperfiltration increases the risk of renal failure later in life

Question 5

What is the underlying condition we appreciate with bilateral agenesis?

Answer 5

Low or absent amniotic fluid

Question 6

Results of low amniotic fluid

Answer 6

1. Lung Hypoplasia - Amniotic fluid helps the lung inflate in utero, and without enough of it, your lungs don’t stretch enough
2. Flat face and low set ears
3. Developmental defects of extremities caused by the baby being pushed against mom suring development

Question 7

These conditions are known as what?

1. Lung Hypoplasia - Amniotic fluid helps the lung inflate in utero, and without enough of it, your lungs don’t stretch enough
2. Flat face and low set ears
3. Developmental defects of extremities caused by the baby being pushed against mom suring development

Answer 7

Potter Sequence

Question 8

Oligohydramnios

Answer 8

Too little amniotic fluid

Question 9

Dysplastic Kidney follows what inheritance pattern?

Answer 9

Noninherited, congenital malformation

Question 10

What is and what is happening with a dysplastic kidney?

Answer 10

Noninherited, congenital malformation of renal parenchyma characterized by cysts and abnormal tissue like cartilage

Question 11

Why might we see bilateral dysplastic kidneys instead of the more common unilateral dysplastic kidneys on an exam?

Answer 11

Because examiners are trying to get you to think. They want you to confuse dysplastic kidney with PKD, which will be your knee jerk answer.

Question 12

Is there an inheritance risk for PKD?

Answer 12

Yep! Inherited defect

Question 13

PKD does what to the kidneys?

Answer 13

Bilateral enlarged kidneys with cysts in the renal cortex and medulla

Question 14

Most important fact in determining the type of PKD

Answer 14

Most likely autosomal recessive PKD if it is an infant and autosomal dominant if it is a young adult

Question 15

Autosomal recessive PKD is associated with what two other conditions?

Answer 15

1. Congenital hepatic fibrosis

2. Hepatic cysts

Question 16

Newborns with autosomal recessive PKD may present with this

Answer 16

Potter Sequence

Question 17

Autosomal Recessive PKD leads to these general lethal conditions

Answer 17

Renal failure and HTN

Question 18

What kind of infantile presentation might we expect with someone who has Autosomal PKD?

Answer 18

Recall that it is linked to congenital hepatic fibrosis caused by the hepatic cysts. This will lead to liver portal hypertension.

Question 19

Autosomal Dominant PKD is linked genetically to mutations. What are they?

Answer 19

APKD1 and 2 genes

Question 20

Renal failure and HTN are actually common in both forms of PKD, but this is more common in the autosomal dominant.

Answer 20

Hematuria

Question 21

Both forms of PKD are associated with hepatic cysts. Obviously in the young adult who has autosomal dominant, we won’t expect congenital hepatix fibrosis as strongly because they have lived so long.

However, there are two other conditions unique to the autosomal dominant PKD. What are they?

Answer 21

Berry aneurysm and mitral valve prolapse

Question 22

What is the underlying difference for why Autosomal Dominant PKD hits later in life instead of early?

Answer 22

The cysts develop over time

Question 23

Typical history for someone who has autosomal dominant PKD

Answer 23

Family history of renal issues and often times hemorrhagic brain leading to death (Berry Aneurysms caused by APKD (Adult PKD) are the leading cause of death for this condition)

Question 24

Inheritance pattern for Medullary Cystic Kidney Disease

Answer 24

Autosomal dominant defect

Question 25

Where in the kidney will we find problems with medullary cystic kidney disease?

Answer 25

Medullary collecting ducts

Question 26

What type of damage do we see with medullary cystic kidney disease and what are the consequences?

Answer 26

Parenchymal fibrosis results in shrunken kidneys and worsening renal failure