Renal XIII: Developmental Abnormalities and Cystic Kidney Diseases

Question 1

ADPKD is caused by mutations in _______, encoding for ______.

Answer 1

PKD1 and PKD2; polycystin 1 and 2

Question 2

ARPKD is caused by mutations in ______, encoding for ______.

Answer 2

PKHD1; fibrocystin

Question 3

In ureteral duplication there is propensity of ________ into the lower pole

Answer 3

vesicoureteral reflux

Question 4

In ureteral duplication there is propensity of ________ into the upper pole

Answer 4

obstruction

Question 5

Name the components of the triphasic histology in Wilms Tumor

Answer 5

Stromal (fibroblastic), blastemal (small blue cells), epithelial (tubular)

Question 6

What abnormality? 2 ureters ipsilaterally enter the bladder

Answer 6

Ureteral duplication

Question 7

What abnormality? abdominal mass, pain, UTI; more common in boys

Answer 7

Ureteropelvic Junction Obstruction

Question 8

What abnormality? abnormal distention of the bladder by urine due to bladder outlet obstruction

Answer 8

Megalocystis

Question 9

What abnormality? Abnormal induction of metaneprhic blastema by the ureteral bud

Answer 9

Multicystic Dysplasia of the Kidney

Question 10

What abnormality? Abnormal insertion of mesonephric duct on the cloaca prior to dividing into the urogenital sinus and anorectal canal

Answer 10

Posterior Urethral Valves

Question 11

What abnormality? Abnormal kidney shape (grape appearance) with irregularly sized smooth walled cysts ranging in size

Answer 11

Multicystic Dysplasia of the Kidney

Question 12

What abnormality? Abnormal metanephric tissue differentiation of the kidney tissue with cysts and heterotopic tissues

Answer 12

Renal dysplasia

Question 13

What abnormality? Anlage of the kidney is fused (usually at the lower pole)

Answer 13

Horseshoe kidney

Question 14

What abnormality? Associated with cerebral (berry) aneurysms

Answer 14

ADPKD

Question 15

What abnormality? Associated with hepatic cysts

Answer 15

ADPKD

Question 16

What abnormality? backflow of urine up the urinary tract upon contraction of the detrusor muscle during micturition

Answer 16

Reflux

Question 17

What abnormality? Bilateral kidney enlargement with small radial cysts from papillary tips to surface of cortex

Answer 17

ARPKD

Question 18

What abnormality? Bilaterally enlarged kidneys with multiple variable sized renal cysts distributed uniformly

Answer 18

ADPKD

Question 19

What abnormality? Childhood renal tumor with triphasic histology

Answer 19

Wilms Tumor

Question 20

What abnormality? Congenital obstructing membrane in the posterior male urethra

Answer 20

Posterior Urethral Valves

Question 21

What abnormality? Congenital urinary tract obstruction with pulmonary hypoplasia

Answer 21

Potter Syndrome

Question 22

What abnormality? Cryptorchidism due to bladder blocking descent of the testes

Answer 22

Prune Belly (Eagle Barrett) Syndrome

Question 23

What abnormality? Cyst (30%) causes painful midline mass between the umbilicus and suprapubic area

Answer 23

Urachal Remnant

Question 24

What abnormality? cystic dilation of the terminal intravesical ureter

Answer 24

Ureterocele

Question 25

What abnormality? Cysts consist of dilated collecting tubules lined by cuboidal epithelium

Answer 25

ARPKD

Question 26

What abnormality? Deformation of face and limbs, placental amnion nodosum, associated with oligohydramnios

Answer 26

Potter Syndrome

Question 27

What abnormality? dilation of the renal pelvis by accumulated urine due to obstruction

Answer 27

Hydronephrosis

Question 28

What abnormality? dilation of the ureter by accumulated urine due to obstruction

Answer 28

Hydroureter

Question 29

What abnormality? Due to failure of metanephric diverticulum to develop or its early degeneration

Answer 29

Renal agenesis

Question 30

What abnormality? Exposure of bladder mucosa due to absence of the abdominal wall

Answer 30

Exstrophy

Question 31

What abnormality? Failure of kidney to rise out of the pelvis or rotate medially

Answer 31

Renal ectopia

Question 32

What abnormality? Failure of separation by the urorectal septum of the primitive cloaca into the urogenital sinus and anorectal canal

Answer 32

Exstrophy-Epispadias Complex

Question 33

What abnormality? Failure of urachus to degenerate into the median umbilical ligament

Answer 33

Urachal Remnant

Question 34

What abnormality? Fibrous band causing the penis to curve toward its location

Answer 34

Chordae

Question 35

What abnormality? gigantism, macroglossia, exomphalmos, Wilms tumors

Answer 35

Beckwith-Weidemann Syndrome

Question 36

What abnormality? Gross enlargement of liver with bile duct proliferation and congenital hepatic fibrosis

Answer 36

ARPKD

Question 37

What abnormality? Incomplete canalization of ureteric bud at 12 weeks gestation or abnormality of smooth muscle fibers with fibrosis impeding peristalsis

Answer 37

Ureteropelvic Junction Obstruction

Question 38

What abnormality? Kidneys may be discoid in shape, associated with ureteral obstruction

Answer 38

Renal ectopia

Question 39

What abnormality? Location of the urethral opening on the dorsal aspect of the penis

Answer 39

Epispadias

Question 40

What abnormality? Male with thin or lax abdominal wall with megalocystis and tortuous dilated ureters

Answer 40

Prune Belly (Eagle Barrett) Syndrome

Question 41

What abnormality? Most common cause of an abdominal mass in the newborn period

Answer 41

Multicystic Dysplasia of the Kidney

Question 42

What abnormality? Most common cause of bladder outlet obstruction in boys

Answer 42

Posterior Urethral Valves

Question 43

What abnormality? Most common cause of pediatric hydronephrosis

Answer 43

Ureteropelvic Junction Obstruction

Question 44

What abnormality? Most common cystic malformation of the kidney in infancy

Answer 44

Multicystic Dysplasia of the Kidney

Question 45

What abnormality? Most common kidney tumor at birth to 6 months of age

Answer 45

Congenital Mesoblastic Nephroma

Question 46

What abnormality? Most common malignant kidney tumor of childhood

Answer 46

Wilms Tumor

Question 47

What abnormality? Most common renal abnormality

Answer 47

Ureteral duplication

Question 48

What abnormality? Orifice of penile urethra at a location on the ventral aspect of the penis

Answer 48

Hypospadias

Question 49

What abnormality? Renal tumor presenting 4-6 years of age

Answer 49

Wilms Tumor

Question 50

What abnormality? Sinus or fistula leads to drainage of urine at the umbilicus

Answer 50

Urachal Remnant

Question 51

What abnormality? Solitary infiltrating fibrous mass of spindle cells, generally benign with resection

Answer 51

Congenital Mesoblastic Nephroma

Question 52

What abnormality? Underdevelopment of a kidney with contralateral compensatory hypertrophy

Answer 52

Renal hypoplasia

Question 53

What abnormality? Wilms tumor, aniridia, genitourinary malformation, mental retardation

Answer 53

WAGR