Pathoma 12.1 -Kidney and Urinary: Congenital defects Flashcards
What is the MC congenital renal anmolay
Horshoes kidney
Where are horshoe kidneys usually located
lower abdomen
What do the horshoe kidneys get stuck on
the Inferior Mesenteric Artery
Unilateral Renal Agenesis leads to what in the other kidney (3)
hypertrophy
hyperfiltration–> renal failure later in life
Bilateral renal agenesis leads to what condition?
Oligohydramnios
Oligohydramnios leads to what Sequence and it’s 3 sequlae
Potters sequence:
- lung hypoplasia
- low set ears and flat face
- defects of lower extremities
Name the 1 non-inherited and 2 inherited congenital kidney malformations
Non-inherited: Dysplastic Kidney
Inherited: PKD, Medullary Cystic Kidney Disease
Dysplastic Kidney contains what abnormal tissue and what other formation?
Cysts and cartilage
If dysplastic kidney is bilateral what must it be distinguished from? How is it distinguished
pkd
Distinguished by fHx, enlargement in PKD
Two major differences between PKD and medullary Cystic Kidney Disease
PKD: Enlarged Kidneys, cysts in cortex and medulla
Medullary CKD: shrunken kidneys, cysts in medullary collecting ducts
Newborns with AR PKD may present how
with Potters Sequence
Infants with AR PKD present how (2)
hypertension, worsening renal failure
What 2 things is AR PKD associated with?
Congential Hepatic fibrosis
Hepatic cysts
Congenital Hepatic fibrosis leads to what
portal hypertension
What is the difference in presentation between AD and AR forms of PKD
AD- presents in ADults
AR- presents in infants
What is the difference in cysts locations in AR and AD forms of PKD
AR- cysts in kidney and liver
AD- cysts in kidney, liver, brain
What 3 ways does AD PKD present?
hypertension (due to increased renin)
hematuria
worsening renal failure
What 3 things is AD form of PKD associated with?
- berry aneurysm
- hepatic cysts
- mitral valve prolapse
What 2 mutations cause AD PKD
APKD1 or APKD2 genes
Which associated condition of AD form of PKD can cuase death
berry aneurysm
“baby with portal HTN” = what dx?
AR PKD
“Family Hx of renal disease and brain hemorrhage” = what dx?
AD PKD
Is medullary CKD inherited?
yes
What is pattern of inheritance of MCKD
AD
