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Renal System > Renal XIII: Developmental Abnormalities and Cystic Kidney Diseases > Flashcards

Renal XIII: Developmental Abnormalities and Cystic Kidney Diseases Flashcards

1
Q

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

A

PKD1 and PKD2; polycystin 1 and 2

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2
Q

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

A

PKHD1; fibrocystin

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3
Q

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

A

vesicoureteral reflux

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4
Q

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

A

obstruction

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5
Q

Name the components of the triphasic histology in Wilms Tumor

A

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

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6
Q

What abnormality? 2 ureters ipsilaterally enter the bladder

A

Ureteral duplication

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7
Q

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

A

Ureteropelvic Junction Obstruction

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8
Q

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

A

Megalocystis

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9
Q

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

A

Multicystic Dysplasia of the Kidney

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10
Q

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

A

Posterior Urethral Valves

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11
Q

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

A

Multicystic Dysplasia of the Kidney

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12
Q

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

A

Renal dysplasia

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13
Q

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

A

Horseshoe kidney

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14
Q

What abnormality? Associated with cerebral (berry) aneurysms

A

ADPKD

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15
Q

What abnormality? Associated with hepatic cysts

A

ADPKD

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16
Q

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

A

Reflux

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17
Q

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

A

ARPKD

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18
Q

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

A

ADPKD

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19
Q

What abnormality? Childhood renal tumor with triphasic histology

A

Wilms Tumor

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20
Q

What abnormality? Congenital obstructing membrane in the posterior male urethra

A

Posterior Urethral Valves

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21
Q

What abnormality? Congenital urinary tract obstruction with pulmonary hypoplasia

A

Potter Syndrome

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22
Q

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

A

Prune Belly (Eagle Barrett) Syndrome

23
Q

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

A

Urachal Remnant

24
Q

What abnormality? cystic dilation of the terminal intravesical ureter

A

Ureterocele

25
Q

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

A

ARPKD

26
Q

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

A

Potter Syndrome

27
Q

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

A

Hydronephrosis

28
Q

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

A

Hydroureter

29
Q

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

A

Renal agenesis

30
Q

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

A

Exstrophy

31
Q

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

A

Renal ectopia

32
Q

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

A

Exstrophy-Epispadias Complex

33
Q

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

A

Urachal Remnant

34
Q

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

A

Chordae

35
Q

What abnormality? gigantism, macroglossia, exomphalmos, Wilms tumors

A

Beckwith-Weidemann Syndrome

36
Q

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

A

ARPKD

37
Q

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

A

Ureteropelvic Junction Obstruction

38
Q

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

A

Renal ectopia

39
Q

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

A

Epispadias

40
Q

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

A

Prune Belly (Eagle Barrett) Syndrome

41
Q

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

A

Multicystic Dysplasia of the Kidney

42
Q

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

A

Posterior Urethral Valves

43
Q

What abnormality? Most common cause of pediatric hydronephrosis

A

Ureteropelvic Junction Obstruction

44
Q

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

A

Multicystic Dysplasia of the Kidney

45
Q

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

A

Congenital Mesoblastic Nephroma

46
Q

What abnormality? Most common malignant kidney tumor of childhood

A

Wilms Tumor

47
Q

What abnormality? Most common renal abnormality

A

Ureteral duplication

48
Q

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

A

Hypospadias

49
Q

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

A

Wilms Tumor

50
Q

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

A

Urachal Remnant

51
Q

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

A

Congenital Mesoblastic Nephroma

52
Q

What abnormality? Underdevelopment of a kidney with contralateral compensatory hypertrophy

A

Renal hypoplasia

53
Q

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

A

WAGR

Renal System (13 decks)

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