Pediatric Kidney and Urinary Tract Flashcards
In fetal development, the kidneys are _________. As maturation proceeds, more parenchyma grows to even out the dips.
lobular
What is the incidence of unilateral and bilateral renal agenesis?
Unilateral: 1/1000
Bilateral: 1/5000 (lethal)
Renal ectopia results from __________.
failure of the kidney(s) to rise out of the pelvis
Adult polycystic kidney disease can result from mutations in PKD1 or PKD2 (polycystin proteins). _______ develops more slowly.
PKD2
_________ mutations are common in autosomal dominant PKD.
De novo (25%)
Autosomal dominant polycystic kidney disease typically presents in _______________.
the fourth decade of life with chronic flank pain and hematuria; chronic hypertension in the fifth decade
Only _______ percent of ADPKD cases progress to ESRD.
50
What are some associations with ADPKD?
Hepatic cysts Mitral valve prolapse Diverticulosis Cerebral aneurysms Pancreatic cysts
What protein is typically defective in ARPKD?
PKHD1 (fibrocystin)
Autosomal recessive polycystic kidney disease often presents as ___________.
hypertension in the first few years of life
________ is dilations of collecting tubules, while ______ is dilation of the entire nephron.
ARPKD; ADPKD
___________ is the most common cause of abdominal mass in a newborn.
Multicystic dysplastic kidney
The most common kidney tumor present at birth is ____________. It can even be detected via prenatal sonogram by displaying the “ring sign.”
congenital mesoblastic nephroma
Wilms tumor is also known as __________.
nephroblastoma
Wilms tumor accounts for _____ percent of kidney tumors.
80
Why aren’t Wilms tumors biopsied?
Because they are very frangible and easily puncture. Leakage of the fluid upstages the patient.
Rhabdomyoblastic differentiation (presence of skeletal muscle) is seen in _____ percent of Wilms tumors.
10
What is anaplasia?
Large, bizarre mitoses due to p53 mutations
What is the phenotype of Beckwith-Weidemann syndrome?
Gigantism
Macroglossia
Abdominal wall defects
What is WAGR?
Wilms tumors
Aniridia
Genitourinary malformation
Retardation
WAGR results from ________.
deletion of 11p13 (including PAX6 and WT1)
Which kind of PKD presents with larger cysts?
Autosomal dominant
What causes multicystic dysplastic kidney?
Abnormal induction of the metanephric blastema by the ureteric bud
Congenital mesonephric blastoma is associated with trisomy _________.
11
What three tissues does Wilms tumor typically recapitulate?
Blastemal
Stromal
Epithelial
Beckwith-Weidemann syndrome is caused by ________ abnormalities.
imprinting
ADPKD has __________ penetrance.
near 100%
