Exam 2 Cystic diseases of kidney Flashcards
What are the cystic diseases of the kidneys
simple cyst, medullary sponge kidney, adult onset nephronophthisis, familial juvenile nephrophthisis, multicystic renal dysplastic kidney, ADPKD, ARPKD, cystic tumor
What cystic diseases are autosomial dominant
adult polycystic disease, adult onset nephrophthisis
what cystic diseases are autosomal recessive
infant childhoos poycystic disease
familial juvenile nephrophthisis
what is the inheritance of medullary sponge kidney? simple cysts?
none and none
what is the inheritance of multicystic renal dysplasia
none
What is the clincal presentation of adult polycystic disease
asymptomatic until renal insufficiency
hematuria, flank pain, UTI, renal stones, HTN
always b/l
enlarged kidneys on palpation
What are the 2 mutations that can cause adult polycystic diseaseq
PKD 1 more common and worse prognosis
PKD2
encode for polycystin 1 and 2
what age group is adult polycystic disease manifesting in
40-60 yrs
PKD1 has a faster progression in which population
black males
esp with sickle cell trait
What is the biggest concern for those with adult polycystic disease
subarachnoid hemorrhage from intracranial berry aneurysm
What are the subcategories of infantile polycystic disease? most common?
perinatal, neonatal, infantile and juvenile
perinatal and neonatal are most common and present at birth and die quickly usually
what is the mechanism of death for perinatal polycystic disease? cause?
hypoplastic lungs
cause is >90% collecting ducts are cysts
what are clinical features of infantile and juvenile polycystic disease
hepatic fibrosis
are children is polycystic kidney disease put on transplant list.
usually no because have developed such bad portal HTN and esophageal varices, splenomegaly
risk>benefit
What mutation is associated with childhood polycystic disease
PKHD1 encoding fibrocystin on chromosome 6p21-23
locailzed to primary cilium of tubular cells
how do we know that cysts in polycystic disease are from collecting duct originally
cuboidal epithelium
what is the gross description of medullary sponge kidneys
multiple cystic dilations of collecting ducts in medulla
papillary ducts also dilated with small cysts
the cysts are lined by cuboidal epithelium
what are some clinical signs of childhood polycystic disease?
hematuria, UTIs and recurrent renal stones
What is the Tx for medullary sponge kidney
no need- benign
What is the most common genetic cuase of ESRD in children and young adults
familial nephronphthisis
What are the mutations associ with familial nephronophthisis
NPH1,2,3
Majority of nephronophthisis is what type
familial
then aporadic
What is the cause for the most common palpable mass in abdomen
sporadic nephronophthisis
what is the morpholgy of nephronophthisis
corticomedullary cysts with shrunken kidneys
glomeruli are usually well conserved
What genes are associated with adult nephronophthisis? and what is inheritance pattern?
MCKD1 and 2
Autosomal dominant
What is the inheritance an mutations associated with renal -retinal dyspalsia form of nephronopthisis
autosomal recessive
children
NPHP1 though NPHP11
JBT S2,3,9,11
What chromosome encodes PKD 1? PKD2?
PKD 1 is 16p13.3
PKD 2 is 4q13-p23
what are the significant extra renal manifestations of adult polycystic disease
25% mitral valve prolapse
82% divericular disease of colon
cysts in pancrease, spleen and lungs
what do those with nephonophthisis present with
polyuria and polydipsia
where are simple cysts found?
cortrical spaces
What do simple cysts look like
transluced with gray smooth membrane filled with clear fluid
membranes are simple cuboidal epithelium
kidneys normal size
what is presentation of simple cysts
hematuria if hemorrhage in cysts
avascular and may have weird radiogrpahic shadows
must be differentiated from tumors
What are the cysts like in acquired cystic disease
cortical and medullary cysts
contain clear fluid with hyperplastic or flattened tubular epithelium
usually have Ca-oxalate crystals
what is clinical presentation of acquired cystic renal disease
been on dialysis, most are asymoptomatic
hematuria with RBC if cysts bleed
75% develop RCC in wall of cysts
what is Tx for acquired cystic disease
dependent on dialysis
can go on kidney transplant list
What is the most common congenital renal cystic disease
non familial congenital unilateral multicystic renal dysplasia
What causes non familial congenital unilateral multicystic renal dysplasia
failure of ureteric bud to reach renal blastema during development ( 90% have agenesis or a ureter or uteropelbic obstruction)
What are hte pathologic findings of non familial congenital unilateral multicystic renal dysplasia
extensive multiple cysts with intervening mesenchyme
no development of glomeruli
