Genetics Flashcards
Name some examples of congenital anomalies of the kidney
Renal agenesis (missing kidney)
Supernumerary kidneys
Malrotation
Ectopic kidney (failure to ascend)
Horseshoe kidney
The earlier the disruption occurs in development, the more severe the defect!
Describe unilateral renal agenesis
Describe bilateral renal agenesis
What can make us suspect that kidney disease has underlying genetic cause?
- Unknown etiology of kidney disease
- Family history
- Multiple malformations (syndrome)
name the 3 most common hereditary renal diseases
- Autosomal dominant polycystic kidney disease (ADPKD)
- Autosomal recessive polycystic kidney disease (ARPKD)
- Alport syndrome
Polycystic kidney disease is characterized by….
Presence of multiple cysts typically in both kidneys.
- Cysts are fluid-filled
- Cysts cause enlargement
Polycystic kidney disease can also affect….
liver, pancreas, heart and brain
The two major forms of PKD are distinguished by..
their patterns of inheritance
Symptoms and clinical manifestations of ADPKD
Hypertension
Pain (back or flank)
Recurring infections
Gross hematuria
Kidneys stones
ESRD
Proteinuria
Renal cancer
Why do cysts in PKD cause decline of renal function?
Cysts accumulate fluid and enlarge, such that they compress neighbouring renal parenchyma and compromise renal function.
…
Extra-renal manifestations of ADPKD
Which is more severe:
a) PKD1
b) PKD2
a) PKD1
Which condition is more severe:
a) Autosomal dominant PKD
b) Autosomal recessive PKD
b) Autosomal recessive PKD
What is Alport syndrome?
A genetic disease that causes abnormal type IV collagen in the basement membrane of kidney (and other organs).
