Exam 2 Cystic diseases of kidney

Question 1

What are the cystic diseases of the kidneys

Answer 1

simple cyst, medullary sponge kidney, adult onset nephronophthisis, familial juvenile nephrophthisis, multicystic renal dysplastic kidney, ADPKD, ARPKD, cystic tumor

Question 2

What cystic diseases are autosomial dominant

Answer 2

adult polycystic disease, adult onset nephrophthisis

Question 3

what cystic diseases are autosomal recessive

Answer 3

infant childhoos poycystic disease

familial juvenile nephrophthisis

Question 4

what is the inheritance of medullary sponge kidney? simple cysts?

Answer 4

none and none

Question 5

what is the inheritance of multicystic renal dysplasia

Answer 5

none

Question 6

What is the clincal presentation of adult polycystic disease

Answer 6

asymptomatic until renal insufficiency
hematuria, flank pain, UTI, renal stones, HTN
always b/l
enlarged kidneys on palpation

Question 7

What are the 2 mutations that can cause adult polycystic diseaseq

Answer 7

PKD 1 more common and worse prognosis
PKD2
encode for polycystin 1 and 2

Question 8

what age group is adult polycystic disease manifesting in

Answer 8

40-60 yrs

Question 9

PKD1 has a faster progression in which population

Answer 9

black males

esp with sickle cell trait

Question 10

What is the biggest concern for those with adult polycystic disease

Answer 10

subarachnoid hemorrhage from intracranial berry aneurysm

Question 11

What are the subcategories of infantile polycystic disease? most common?

Answer 11

perinatal, neonatal, infantile and juvenile

perinatal and neonatal are most common and present at birth and die quickly usually

Question 12

what is the mechanism of death for perinatal polycystic disease? cause?

Answer 12

hypoplastic lungs

cause is >90% collecting ducts are cysts

Question 13

what are clinical features of infantile and juvenile polycystic disease

Answer 13

hepatic fibrosis

Question 14

are children is polycystic kidney disease put on transplant list.

Answer 14

usually no because have developed such bad portal HTN and esophageal varices, splenomegaly
risk>benefit

Question 15

What mutation is associated with childhood polycystic disease

Answer 15

PKHD1 encoding fibrocystin on chromosome 6p21-23

locailzed to primary cilium of tubular cells

Question 16

how do we know that cysts in polycystic disease are from collecting duct originally

Answer 16

cuboidal epithelium

Question 17

what is the gross description of medullary sponge kidneys

Answer 17

multiple cystic dilations of collecting ducts in medulla
papillary ducts also dilated with small cysts
the cysts are lined by cuboidal epithelium

Question 18

what are some clinical signs of childhood polycystic disease?

Answer 18

hematuria, UTIs and recurrent renal stones

Question 19

What is the Tx for medullary sponge kidney

Answer 19

no need- benign

Question 20

What is the most common genetic cuase of ESRD in children and young adults

Answer 20

familial nephronphthisis

Question 21

What are the mutations associ with familial nephronophthisis

Answer 21

NPH1,2,3

Question 22

Majority of nephronophthisis is what type

Answer 22

familial

then aporadic

Question 23

What is the cause for the most common palpable mass in abdomen

Answer 23

sporadic nephronophthisis

Question 24

what is the morpholgy of nephronophthisis

Answer 24

corticomedullary cysts with shrunken kidneys

glomeruli are usually well conserved

Question 25

What genes are associated with adult nephronophthisis? and what is inheritance pattern?

Answer 25

MCKD1 and 2

Autosomal dominant

Question 26

What is the inheritance an mutations associated with renal -retinal dyspalsia form of nephronopthisis

Answer 26

autosomal recessive
children
NPHP1 though NPHP11
JBT S2,3,9,11

Question 27

What chromosome encodes PKD 1? PKD2?

Answer 27

PKD 1 is 16p13.3

PKD 2 is 4q13-p23

Question 28

what are the significant extra renal manifestations of adult polycystic disease

Answer 28

25% mitral valve prolapse
82% divericular disease of colon
cysts in pancrease, spleen and lungs

Question 29

what do those with nephonophthisis present with

Answer 29

polyuria and polydipsia

Question 30

where are simple cysts found?

Answer 30

cortrical spaces

Question 31

What do simple cysts look like

Answer 31

transluced with gray smooth membrane filled with clear fluid
membranes are simple cuboidal epithelium
kidneys normal size

Question 32

what is presentation of simple cysts

Answer 32

hematuria if hemorrhage in cysts
avascular and may have weird radiogrpahic shadows
must be differentiated from tumors

Question 33

What are the cysts like in acquired cystic disease

Answer 33

cortical and medullary cysts
contain clear fluid with hyperplastic or flattened tubular epithelium
usually have Ca-oxalate crystals

Question 34

what is clinical presentation of acquired cystic renal disease

Answer 34

been on dialysis, most are asymoptomatic
hematuria with RBC if cysts bleed
75% develop RCC in wall of cysts

Question 35

what is Tx for acquired cystic disease

Answer 35

dependent on dialysis

can go on kidney transplant list

Question 36

What is the most common congenital renal cystic disease

Answer 36

non familial congenital unilateral multicystic renal dysplasia

Question 37

What causes non familial congenital unilateral multicystic renal dysplasia

Answer 37

failure of ureteric bud to reach renal blastema during development ( 90% have agenesis or a ureter or uteropelbic obstruction)

Question 38

What are hte pathologic findings of non familial congenital unilateral multicystic renal dysplasia

Answer 38

extensive multiple cysts with intervening mesenchyme

no development of glomeruli