Thursday - renal development cases - muskovitz

Question 1

newborn with hydronephros bilaterally, ditended bladder w/ thickened wall.
where is obstruction?
diagnosis?
embryology of condition?
tx?

Answer 1

bladder outlet

posterior urethral valves

persistence of mucosal membrane in prostatic urethra

nephrostomy tubes that let kidneys drain through abdomen

Question 2

newborn with ambiguous genitalia

(most likely) diagnosis?

test to help diagnose?

etiology of abnormality?

tx?

Answer 2

over-viralized female with adrenal hyperplasia (could be underviralized male with 5alpha-reductase def. but that’s rare)

karyotype and testosterone, electrolytes

ezymatic block of steroid metabolism –> excessive androgens

glucocorticoids to decrease ACTH

Question 3

4mo old. fever and lethargy. high white count lots of bands. normal CSF white count and no bacteria. Urine - gram neg rods. Ultrasound - right kidney, upper pole has collection of urine. second ureter that is dilated

diagnosis

embryology of disorder

clinical diagnosis?

initial therapy
long term therapy

Answer 3

duplicated collecting system with obstruction

abnormal splitting of uretric bud and metanephros

urosepsis from e coli

broad spectrum antibiotics

surgery, but also antibiotics until then, follow groth, follow developmental milestones

Question 4

male newborn. fundal height was less than expected. oligohydramnios. respiratory distress @ birth. flat face, low ears.
ultrasound - no renal tissue, no bladder.

diagnosis

embryology

why did the fetus survive until term

how to council mother on future pregnancies

Answer 4

bilateral renal agenesis

failure of the ureteric buds to form.

renal function is supplied by mother

recurrence is not increased vs general population