Renal Cystic Diseases Flashcards
What is the most common form of inheritance for inherited polycystic kidney disease?
autosomal DOMINANT (ADPKD)
less common is autosomal recessive (ARPKD)
What is the most common genetic cause of CKD?
ADPKD
Common clinical presenting features of ADPKD
abdominal pain, palpable kidneys, HTN!!!!, infection, kidney stones
Complications of ADPKD
BERRY ANEURYSM!!!!!!!!!!!! infection/bleeding of renal cysts renal failure (advanced disease) heart valve abnormalities (mitral valve prolapse) cysts in other organs diverticula hernias (abdominal/inguinal)
How to dx ADPKD
renal U/S (multiple cysts on kidney)
can do CT or MRI
Treatment for ADPKD
No cure :(
just drain cysts if symptomatic or treat infections that happen. Also control HTN
Other name for autosomal recesssive PKD?
infantile polycystic kidney disease (usually seen in newborns)
Clinical features of ARPKD
- renal cysts predominantly in renal colecting ducts
- ALWAYS HAS LIVER INVOLVEMENT (portal HTN, hepatic fibrosis, cholangitis)
- abdominal distension due to increased kidney size
- HTN
- enlarged kidneys -> pulmonary hypoplasia + limited diaphragmatic development in newborns
- Potter syndrome (oligohydramnios, limb hypoplasia, abnormal facies)
How to dx ARPKD
ultrasound during pregnancy (finding of cysts when none of parents have cysts)
How to treat ARPKD
no cure
manage respiratory complications and ESRD with renal replacement
Having medullary sponge kidney puts you at risk for what?
kidney stones, UTIs, or hematuria
BUT CAN ALSO BE ASYMPTOMATIC
How to diagnose medullary sponge kidney
IVP!!
will show cystic dilation of collecting ducts
Medullary sponge kidney is associated with what endocrine abnormalities
hyperparathyroidism and parathyroid adenoma
What is a common finding on renal ultrasound (more than 50% of people have them over age 50)
simple renal cysts
no treatment necessary
