Renal Congenital Anomalies (Patho)

Question 1

Agenesis

Answer 1

Bilateral- incompatible with life

Unilateral- normal function

Question 2

Hypoplasia

Answer 2

Failure of development of the kidney to a normal size
Bilateral or unilateral
No scarring with a decreased number of renal lobes (6 or less) required for true hypoplasia
Most cases are acquired (show scarring)

Question 3

Ectopic Kidneys

Answer 3

Typically just above the pelvic brim or in pelvis

Question 4

Horseshoe Kidney

Answer 4

Fusion of the upper (10%) or lower poles (90%) to form a single horseshoe-shaped kidney

Question 5

Cystic disease of the kidney

Answer 5

Hereditary or acquired
Relatively common
May lead to chronic kidney disease

Question 6

Cystic renal dysplasia

Answer 6

Unilateral or bilateral
Gross: Enlarged, multi-cystic, and irregular kidneys
Micro: Undifferentiated mesenchyme, cartilage, immature collecting ductules, and variably sized cysts lined by flattened epithelium
Most cases also have lower tract anomalies
Sporadic disorder

Question 7

Autosomal Dominant (Adult) Polycystic Kidney Disease

Answer 7

Hereditary, affecting 1/400-1,000 live births
Autosomal dominant inheritance
Bilateral disease, involving only a portion of the kidney initially
Renal failure in

Question 8

Genetics of PKD

Answer 8

PKD1 encodes for polycystin 1
PKD2 encodes polycystin 2, less common and less severe
Both are present in primary cilia in tubular cells- this is disturbed and can also get disruption of intracellular Ca++