Polycystic Kidney Disease Lecture Powerpoint

Question 1

Nongenetic causes of renal cyst formation (1)

Answer 1

-Acquired with end stage renal disease after several years of dialysis typically

Question 2

Genetic causes of renal cyst formation (5)

Answer 2

• Autosomal dominant PKD
• Medullary sponge kidney
• autosomal recessive PKD
• Nephronophithisis
• Medullary cystic kidney disease

Question 3

Mechanism of polycystic kidney disease

Answer 3

-malformation of proteins important to the structure of the primary cilium (polycystin 1 and 2)

Question 4

3 criteria for a simple kidney cyst to be evaluated on ultrasonography that if present allow it to be differentiated from a carcinoma or abscess

Answer 4

• mass is round and sharply demarcated with smooth walls
• no echoes in mass
• good transmission of cyst and enhanced transmission byond the cyst (fluid filled)

Question 5

Imaging study of choice for renal cyst if ultrasonography proves inconclusive and one good alternative

Answer 5

CT scan

MRI

Question 6

Bosniak classification of renal cysts

Answer 6

1 - not malignant
2 - not malignant
2F
3 - 50/50
4 - always malignant

Question 7

Most common renal masses that typically produce no signs or symptoms

Answer 7

Simple renal cysts

Question 8

Risks associated with simple cysts (3)

Answer 8

• infection
• hypertension
• hemorrhage

Question 9

A negative side effect in 50% of patients on dialysis for >3 years is development of…

Answer 9

PKD

Question 10

Acquired PKD clinicla features (3)

Answer 10

• flank pain
• hematuria
• predispsoal to nephrolithiasis

Question 11

Autosomal dominant PKD characteristics (4)

Answer 11

• most common
• ultimately fatal
• no specific therapy
• cysts often show up in other areas as well

Question 12

Autosomal dominant PKD affected genes, what chromosomes do they occupy?

Answer 12

-PKD1 (faster progressoin) and 2 (less common and slower), 16 and 4 respectively

Question 13

Those with audosomal dominant PKD most often die of what cause?

Answer 13

-cardiac diseases

Question 14

Diagnosis of a renal cyst below the age of 18 is strongly suggestive of…

Answer 14

…Autosomal dominant PKD

Question 15

Test of choice to detect autosomal dominant PKD

Answer 15

Ultrasound

Question 16

Absence of cysts on ultrasound cannot exclude possibility of subsequent expression of ____phenotype

Answer 16

Autosomal dominant PKD

Question 17

2 major goals of treatment of Autosomal dominant PKD

Answer 17

• control hypertension

- control diabetes

Question 18

Autosomal dominant PKD prognosis

Answer 18

-Variable and hard to predict, about 50% reach age 73 without being at end stage renal failure

Question 19

Autosomal recessive pkd presents at ____

Answer 19

infancy

Question 20

Complications of infants with autosomal recessive PKD (3, which one kills?)

Answer 20

• portal hypertension
• pulmonary hypoplasia (death)
• hepatomegaly

Question 21

___% of children with autosomal recessive pkd progress to end stage renal disease in the first decade of life

Answer 21

50

Question 22

Autosomal recessive pkd treatment and prognsosi

Answer 22

• none, sometimes transplant

- 15 year survival rate about 67%

Question 23

Medullary sponge kidney is malformation of the ___ and ____ opposed to in pkd where the ____ is affected

Answer 23

collecting ducts, renal pyramids. cortex

Question 24

Medullary sponge kidney diagnostic study

Answer 24

Intravenous pyelogram

Question 25

Medullary sponge kidney treatment and prognosis

Answer 25

• preventing recurrent infections and stones

- very good, rarely leads to end stage renal disaese

Question 26

Nephronophthisis definition

Answer 26

A disease characterized by fibrosis impairing kidney function in younger patients often times stunting growth and resulting in fluid filled cysts in the cortocomedullary region of kidneys

Question 27

Most common genetic cause of ESRD in children and young adults is…

Answer 27

….Nephronophthisis

Question 28

Medullary cystic kidney disease definition and 3 symptoms

Answer 28

A disease characterized by fibrosis impairing function of kidneys in adult age patients that ultimately leads to kidney failure, often times lacks cyst development but has skin darkening, hiccups, and nocturia

Question 29

Medullary cystic kidney disease specific gravity will be….

Answer 29

….very low

Question 30

Medullary cystic kidney disease treaetment

Answer 30

no cure, control symptoms