Flashcards in 12.1: Congenital Renal malformations Deck (22):
What is the most common congenital renal anomaly?
What is a horseshoe kidney? What causes it to be in the pelvis?
-Kidney combined at the lower pole
-Blocked by the IMA as it ascends into the abdomen
Where does the kidney develop embryologically, and what happens with maturation?
Develops in the pelvis, and ascends
What is the problem with unilateral agenesis of the kidney?
Leads to hypertrophy of the existing kidney, and increased risk of renal failure later in life
What is the major uterine pathology that can occur with bilateral renal agenesis?
Why is there lung hypoplasia with bilateral renal agenesis?
Since no amniotic fluid produced from the kidneys, lungs are not pushed out by the amniotic fluid as they should
What causes the flat face and low set ears with oligohydramnios?
Pushing of the face against the uterus
What are the components of Potter's sequence?
-flat face and low set ears
-Clubbed feet/extremity defects
What is a dysplastic kidney? What is the inheritance pattern?
*Non-inherited*, congenital malformation of the renal parenchyma, characterized by cysts and abnormal tissue
Are dysplastic kidneys usually unilateral, or bilateral? What type of tissue is particularly found in this?
-Unilateral in RL, but bilateral on boards
Is polycystic kidney disease (PKD) inherited?
What is PKD? Is this usually bilateral or unilateral? Where in the kidney do cysts usually form?
Bilateral enlarged kidneys with cysts in renal cortex and medulla
What are the s/sx of ARPKD? In whom is this common? What is it associated with (3, think other organs)?
Presents in infants as worsening HTN and renal failure
Associated with congenital hepatic fibrosis, hepatic cysts, and Potter's sequence
ARPKD is associated with portal HTN. Why?
ARPKD causes hepatic cysts and fibrosis, leading to HTN
Infants with portal HTN should be suspicious of what?
What are the s/sx of ADPKD? In whom does it usually occur? What is the genetic mutation?
HTN, hematuria, and worsening renal failure in young ADults
ADPKD1 or ADPKD2 gene
What is ADPKD associated with (heart, brain, liver)?
-Mitral valve prolapse
Why is it that ADPKD usually presents in young adults?
cysts of the kidneys develop over time 2/2 genetic defects
What causes the HTN with ADPKD?
Increased renin release
What is medullary cystic kidney disease? Inheritance pattern? What are the gross characteristics of this?
AD defect that leads to cysts in the medullary collecting ducts
Parenchymal fibrosis results in *shrunken* kidneys and worsening renal failure
What are the two major differences between PKD and medullary cystic kidney disease?
PKD has cysts everywhere, whereas medullary cystic kidney dz only in the medulla
-PKD = enlarged kidneys, MDKD = small, fibrotic kidneys