Congenital Flashcards
Etiology of horseshoe kidney
kidneys get suck on IMA as they ascend from the pelvis
Horseshoe kidney are usually fused where
lower pole of the kidneys
Complication(s) of unilateral renal agenesis
hypertrophy of remaining kidney
hyperfiltration of remaining kidney later in life
increased risk of renal failure later in life
Complication(s) of bilateral renal agensis
oligohydramnios
(deficiency in amniotic fluid–because fetus’s urinary excretions form amniotic fluid)
Malformations associated with bilateral renal agenesis
Potter Sequence:
lung hypoplasia (from not being able to breath in amniotic fluid and expand), low set ears, flat face, extremity defects (from being pushed up against wall of uterus–no amniotic fluid cushion)
Dysplastic Kidney
defect
congenital non-inherited defect forming cysts in kidneys
usually unilateral, but may be bilateral (especially on exams)
Polycystic kidney disease
inheritance patterns
autosomal dominant: adults
(ADults –> Autosomal Dominant)
autosomal recessive: infants
Infants with autosomal recessive PKD may present with what set of abnormalities?
Potter sequence
lung hypoplasia (not enough amniotic fluid), flat face, low set ears, extremity abnormalities
Autosomal recessive (infant-type) PKD associated with what other conditions?
hepatic cysts
hepatic fibrosis
⇒ portal HTN
Presentation of autosomal recessive PKD?
infants with signs and Sx of portal HTN
Why does it make sense that the infantile form of PKD is autosomal recessive?
if autosomal dominant, people wouldn’t survivie long enough to reproduce
Autosomal dominant PKD associated conditions
berry aneurysms*
hepatic cysts
mitral valve prolapse
Autosomal dominant (adult-type) PKD gene associations
APKD1 and APKD2
Medullary Cystic Kidney Disease
cyst location
medullary collecting duct cysts
Medullary Cystic Kidney Disease
gross apperance
shrunken kidneys
