Development and Cystic diseases (Lovell)

Question 1

Hydronephrosis. Define. Signs/Symptoms.

Answer 1

Dilation of renal pelvis by urine. Commonly due to an obstruction of the ureteropelvic junction (UPJ), more common in boys and more common on the left side. (1:2000 kids).

Abdominal mass, pain, UTI

Often detected in-utero, and can even be operated in-utero in some cases.

Result of incomplete canalization of the ureteric bud at 12 weeks gestation OR abnormality of muscle fibers which impede peristalsis

Question 2

Hydroureter

Answer 2

Narrowing near the trigone of the bladder, leading to DILATATION of the ureters. Can treat with stenting. Surgical intervention is required.

Question 3

What can result from duplication of the ureter?

Answer 3

If exits externally, can cause drip incontinence. Can increase risk of UTI. Often children will present with difficulty potty-training.

Present in 1% of the population, often asymptomatic.

Complications also include vesicoureteral reflux - reflux of urine back up the ureter due to contraction of the detrusor. Generally results in hydroureter.

Question 4

What is a ureterocele?

Answer 4

A dilatation of the distal ureter where it joins the bladder. Can be seen on contrast xray. Can be obstructive once a bulge forms, and can cause reflux. Can be diagnosed prenatally.

Question 5

What can occur as a result of a urachal remnant?

Answer 5

Normally the urachus connects the dome of the bladder to the allantois in the umbilicus. If it remains patent, it can cause pain and retraction of the umbilicus during micturition. A cyst often forms, and a fistula can also form leading to drainage at the umbilicus.

Question 6

What is megalocystis?

Answer 6

Abnormal distention of the bladder by urine due to bladder outlet obstruction

Question 7

What results from posterior urethral valves?

Answer 7

This is a membrane that causes a partial or complete closure of the posterior male urethra that leads to a malformation of all upstream structures (Bladder, ureters, pelvis). It is usually diagnosed prenatally due to bladder distension. If more mild, may present in a boy with difficulty urinating or UTIs.

Question 8

Hypospadias

Answer 8

The orifice (meatus) is located in an abnormal location. On the ventral surface (the bottom, all the way down to the perineum).

Question 9

Chordee

Answer 9

A fibrous band that causes the penile shaft to curve.

Question 10

Epispadias

Answer 10

Urethral meatus is located on the dorsal aspect of the penis (the top).

Question 11

Exstrophy

Answer 11

Exposure of the bladder mucosa due to absence of the abdominal wall.

Question 12

High yield

What happens due to fetal urinary tract obstruction?

Answer 12

Oligohydraminos. Decreased amt of amniotic fluid, leads to less room for fetal movement, loss of in utero respiration and impaired lung development. Can lead to potters facies.

Question 13

What is the classical description of Potter’s facies?

Answer 13

Large, flattened ears.
Flattened nose.
Infraorbital skin folds.

Question 14

What is amnion nodosum?

Answer 14

Nodules of squamous cells (shed from fetus) that deposit on the placenta. Is a sign of oligohydramnios.

Question 15

What is an extremely rare syndrome (1/50,000) that may show up on boards? It results in a very distended abdomen.

Answer 15

Prune belly (Eagle-Barrett Syndrome)

Results from megalocystis, which causes atrophy of the abdominal wall muscles and prevents the testes from descending (literal obstruction of descent by huge bladder).