12.1 Congenital

Question 1

most common congenital renal anomaly

Answer 1

horseshoe kidney

Question 2

what does horseshoe kidney get caught on in development?

Answer 2

Inferior mesenteric a

Question 3

what happens in unilateral renal agenesis?

Answer 3

the remaining kidney undergoes hypertrophy to do the work of 2 kidneys.

-increased risk of renal failure later in life.

Question 4

bilateral renal agenesis:

what happens?

Answer 4

• leads to oligohydramnios (reduced amniotic fluid)
• remember, fetus is floating in its own amniotic fluid, made with help of kidneys
• results in Potter sequence, dead baby.

Question 5

Potter sequence:

• caused by what
• what happens (3 defects)

Answer 5

• caused by oligohydramnios (reduced amniotic fluid), which can be caused by bilateral renal agenesis
  1. pulmonary hypoplasia (not enough fluid to help lungs expand to develop)– leads to death of baby
  2. facial defects (flat face, low ears from pressed against uterus)
  3. extremity defects (pressed against uterus)

Question 6

a baby is born with a dysplastic kidney. What’s the likelihood of their children getting it?

Answer 6

Not likely. This is not an inherited condition.

Question 7

What is dysplastic kidney?

-what can clinical presentation of bilateral dysplastic kidney be confused with?

Answer 7

Congenital, noninherited malformation of renal parenchyma, with:

• cysts
• abnormal tissue (eg cartilage)
• can be confused with PKD

Question 8

Pt has cysts in both kidneys.

Differential?

Answer 8

• PKD (polycystic kidney disease)
• Dysplastic kidney, bilateral

Question 9

Polycystic kidney disease (PKD)

• what happens
• types

Answer 9

• inherited defect
• cysts in both kidneys (cortex and medulla), results in enlarged kidneys that don’t work

Type 1: auto rec. Infants

Type 2: auto dom. adults. (ADults)

Question 10

Polycystic kidney disease (PKD)

-symptoms for both AP and AD (3 main ones)

Answer 10

Cysts in:

1. kidney (renal failure, HTN, possible Potter sequence)
2. liver (cause hepatic fibrosis, portal HTN)
3. brain (berry aneurysms)

Question 11

Baby has portal HTN.

Think what?

-what else to look for?

Answer 11

ARPKD

• caused by cysts in liver causing fibrosis.
• look for renal cysts!
• baby may have Potter’s as well.

Question 12

Most feared complication of ADPKD

Answer 12

-berry aneurysms

Question 13

Pt with kidney problems, has family history of brain hemmorhage

Think what?

Answer 13

Think ADPKD.

-berry aneurysms are common finding. Auto dom.

Question 14

medullary cystic kidney disease

• inherited/pattern?
• what happens

Answer 14

• inherited, auto dom.
• cysts in medullary collecting ducts
• shrunken kidneys from fibrosis. renal failure.

Question 15

medullary cystic kidney disease vs PKD

-how to differentiate?

Answer 15

in medullary cystic kidney disease,

1. cysts only in medulla (PKD is cortex and medulla)
2. shrunken kidneys (PKD is enlarged kidneys)

Question 16

name 5 types of congenital kidney disorders

inheritance patterns?

Answer 16

1. horseshoe kidney – noninherited
2. renal agenesis – noninherited
3. Dyspastic kidney – noninherited
4. PKD – ARPKD or ADPKD
5. medullary cystic kidney disease – auto dom

Question 17

horseshoe kidney:

• assoc with what genetic disorder
• increased risk of what in life?

Answer 17

• Turner’s
• increased risk of kidney stones (b/c ureters pressed by kidney mass)