cystic kidney disease and nephrolithiasis Flashcards
two types of polycystic kidney disease
autosomal recessive PKD
autosomal dominant PKD
ARPKD onset
infancy or early childhood
ARPKD mutation
PKHD1 gene on chromosome 6
most common mutation in ADPKD
PKD1 on chromosome 16
other mutation in ADPKD
PKD2 on chromosome 4
ADPKD symptom onset
after 30 yrs old usually
ADPKD pathophys
abnormal cilia mediated signaling pathways leads to the formation and expansion of cysts in the cortex/medulla
compression of vessels leads to ischemia and destruction of parenchyma
most common inherited cause of CKD
ADPKD
PKD1
polycystic 1
involved in cell-cell or cell-matrix interactions
PKD2
polycystic 2
nonselective cation channel transporting Ca
renal manifestation of ADPKD
gross hematuria flank pain kidney stones CKD UTIs
extra-renal manifestation of ADPKD
intracranial aneurysm
hepatic and pancreatic cysts
HTN
diverticulosis
renal manifestation of ARPKD
protruding abdomen
chronic renal failure: hematuria, oliguria
extrarenal manifestation of ARPKD
HTN
hepatic fibrosis
ADPKD US findings
enlarged kidneys with multiple cysts of varying sizes
ARPKD US findings
enlarged kidneys with multiple cysts bilaterally of equal size
hepatic cysts
diagnostic imaging of choice of PKD
US
simple cyst treatment
observation
multiple cyst treatment
increase fluid intake
ACEI or ARB for HTN
tolvaptan
avoid nephrotoxic substances
tolvaptan
slows growth of kidney cysts and delays progression to ESRD
tuberous sclerosis sx
seizures respiratory compromise recurrent hematuria increased risk of Renal cell carcinoma angiofibromas skin lesions
tuberous sclerosis
autosomal dominant or spontaneous mutation of tumor suppressor genes
risk factors of getting kidney stones
hot climate
high protein, high salt, low K/Mg diet
increased risk with metabolic syndrome
age, obesity
most kidney stones are
calcium oxalate
type of stone that is more common after 55
uric acid
type of stones that are more common in the summer
calcium oxalate and uric acid
cystine stones
congenital defect in cystine reabsorption
hexagonal crystals
treatment of cystine stones
urinary alkalinization, diet modification
allopurinol can treat
uric acid stones
ph <5 suggest ____ stones
uric acid
kidney stone general s/sx
hematuria
colicky flank pain that radiates anteriorly
CVA tenderness
N/V
struvite stone risk factors
UTI with urea splitting organisms
management of stones < 5 mm
IV fluids and analgesics
tamsulosin
management of stones > 5 mm
lithotripsy
ureteroscopy
percutaneous nephrolithotomy
imaging test of choice for nephrolithiasis
non contrast CT abdomen and pelvis
____ stones are usuals due to high protein foods, gout, chemo
uric acid
