Renal XIII: Developmental Abnormalities and Cystic Kidney Diseases Flashcards
ADPKD is caused by mutations in _______, encoding for ______.
PKD1 and PKD2; polycystin 1 and 2
ARPKD is caused by mutations in ______, encoding for ______.
PKHD1; fibrocystin
In ureteral duplication there is propensity of ________ into the lower pole
vesicoureteral reflux
In ureteral duplication there is propensity of ________ into the upper pole
obstruction
Name the components of the triphasic histology in Wilms Tumor
Stromal (fibroblastic), blastemal (small blue cells), epithelial (tubular)
What abnormality? 2 ureters ipsilaterally enter the bladder
Ureteral duplication
What abnormality? abdominal mass, pain, UTI; more common in boys
Ureteropelvic Junction Obstruction
What abnormality? abnormal distention of the bladder by urine due to bladder outlet obstruction
Megalocystis
What abnormality? Abnormal induction of metaneprhic blastema by the ureteral bud
Multicystic Dysplasia of the Kidney
What abnormality? Abnormal insertion of mesonephric duct on the cloaca prior to dividing into the urogenital sinus and anorectal canal
Posterior Urethral Valves
What abnormality? Abnormal kidney shape (grape appearance) with irregularly sized smooth walled cysts ranging in size
Multicystic Dysplasia of the Kidney
What abnormality? Abnormal metanephric tissue differentiation of the kidney tissue with cysts and heterotopic tissues
Renal dysplasia
What abnormality? Anlage of the kidney is fused (usually at the lower pole)
Horseshoe kidney
What abnormality? Associated with cerebral (berry) aneurysms
ADPKD
What abnormality? Associated with hepatic cysts
ADPKD
What abnormality? backflow of urine up the urinary tract upon contraction of the detrusor muscle during micturition
Reflux
What abnormality? Bilateral kidney enlargement with small radial cysts from papillary tips to surface of cortex
ARPKD
What abnormality? Bilaterally enlarged kidneys with multiple variable sized renal cysts distributed uniformly
ADPKD
What abnormality? Childhood renal tumor with triphasic histology
Wilms Tumor
What abnormality? Congenital obstructing membrane in the posterior male urethra
Posterior Urethral Valves
What abnormality? Congenital urinary tract obstruction with pulmonary hypoplasia
Potter Syndrome
What abnormality? Cryptorchidism due to bladder blocking descent of the testes
Prune Belly (Eagle Barrett) Syndrome
What abnormality? Cyst (30%) causes painful midline mass between the umbilicus and suprapubic area
Urachal Remnant
What abnormality? cystic dilation of the terminal intravesical ureter
Ureterocele
What abnormality? Cysts consist of dilated collecting tubules lined by cuboidal epithelium
ARPKD
What abnormality? Deformation of face and limbs, placental amnion nodosum, associated with oligohydramnios
Potter Syndrome
What abnormality? dilation of the renal pelvis by accumulated urine due to obstruction
Hydronephrosis
What abnormality? dilation of the ureter by accumulated urine due to obstruction
Hydroureter
What abnormality? Due to failure of metanephric diverticulum to develop or its early degeneration
Renal agenesis
What abnormality? Exposure of bladder mucosa due to absence of the abdominal wall
Exstrophy
What abnormality? Failure of kidney to rise out of the pelvis or rotate medially
Renal ectopia
What abnormality? Failure of separation by the urorectal septum of the primitive cloaca into the urogenital sinus and anorectal canal
Exstrophy-Epispadias Complex
What abnormality? Failure of urachus to degenerate into the median umbilical ligament
Urachal Remnant
What abnormality? Fibrous band causing the penis to curve toward its location
Chordae
What abnormality? gigantism, macroglossia, exomphalmos, Wilms tumors
Beckwith-Weidemann Syndrome
What abnormality? Gross enlargement of liver with bile duct proliferation and congenital hepatic fibrosis
ARPKD
What abnormality? Incomplete canalization of ureteric bud at 12 weeks gestation or abnormality of smooth muscle fibers with fibrosis impeding peristalsis
Ureteropelvic Junction Obstruction
What abnormality? Kidneys may be discoid in shape, associated with ureteral obstruction
Renal ectopia
What abnormality? Location of the urethral opening on the dorsal aspect of the penis
Epispadias
What abnormality? Male with thin or lax abdominal wall with megalocystis and tortuous dilated ureters
Prune Belly (Eagle Barrett) Syndrome
What abnormality? Most common cause of an abdominal mass in the newborn period
Multicystic Dysplasia of the Kidney
What abnormality? Most common cause of bladder outlet obstruction in boys
Posterior Urethral Valves
What abnormality? Most common cause of pediatric hydronephrosis
Ureteropelvic Junction Obstruction
What abnormality? Most common cystic malformation of the kidney in infancy
Multicystic Dysplasia of the Kidney
What abnormality? Most common kidney tumor at birth to 6 months of age
Congenital Mesoblastic Nephroma
What abnormality? Most common malignant kidney tumor of childhood
Wilms Tumor
What abnormality? Most common renal abnormality
Ureteral duplication
What abnormality? Orifice of penile urethra at a location on the ventral aspect of the penis
Hypospadias
What abnormality? Renal tumor presenting 4-6 years of age
Wilms Tumor
What abnormality? Sinus or fistula leads to drainage of urine at the umbilicus
Urachal Remnant
What abnormality? Solitary infiltrating fibrous mass of spindle cells, generally benign with resection
Congenital Mesoblastic Nephroma
What abnormality? Underdevelopment of a kidney with contralateral compensatory hypertrophy
Renal hypoplasia
What abnormality? Wilms tumor, aniridia, genitourinary malformation, mental retardation
WAGR
