Dr. Indran Urinary System Anomalies

Question 1

¨One of the first genes identified as important in ureteric bud branching in humans was the ________gene

_____ is essential for normal urogenital development

Answer 1

WT1 (WILMS TUMOR SUPPRESSOR 1)

¨WT1

Question 2

In Wilms tumor, Histology shows different stages of embryological formation of the kidney, showing 3 histological areas:

Answer 2

a stromal area

a blastemal area of tightly packed embryonic cells

a tubular area

Question 3

______

Characterized by: Wilms’ tumor Aniridia Genital anomalies Intellectual disability (Mental Retardation)

______

Consists of: Pseudohermaphroditism Wilms’ tumor Complicated with renal failure

Answer 3

WAGR syndrome:

Denys-Drash syndrome (rare syndrome):

Question 4

______\_ is relatively common, asymptomatic and compatible with life

_________is relatively uncommon

Causes oligohydramnios - compression of the fetus, resulting in Potter sequence/syndrome (deformed limbs, wrinkly skin, and abnormal facial appearance) Infants with bilateral renal agenesis are usually stillborn or die shortly after birth

__________Occurs when there is a disorganization of renal parenchyma with abnormally developed and immature nephrons

_______Congenitally small kidney with no pathologic evidence of dysplasia

Answer 4

Unilateral renal agenesis

Bilateral renal agenesis

Renal dysplasia

Renal hypoplasia

8.6.1

Question 5

Potter Sequence

Answer 5

Potter Facies: Characteristics: Flattened nose Low set ears

Extremity Deformities: Potter hand: Thickened tapering fingers

Club foot