congenital disorders W1

Question 1

Bartter’s syndrome affects which SLC? what is this effect similar to?

Answer 1

impaired SLC12A2 (Cl- K+ & Na+ uptake)
like a loop diuretic

Question 2

effects of Bartter’s syndrome

Answer 2

loss of Na+ & K, much H2O, hypercalcuria

Question 3

Gitelman’s syndrome affects which SLC? what is this effect similar to?

Answer 3

SLC12A3 (Cl- & Na+ uptake)
like thiazides!

Question 4

effects of Gitelman’s syndrome?

Answer 4

loss of Na+ K+ & H2O
hypocalcuria

Question 5

Liddle’s syndrome affects which channel and how?

Answer 5

hyperactive ASC

Question 6

effects of Liddle’s syndrome?

Answer 6

body volume expansion, hypertension

Question 7

what is Liddle’s syndrome treated by?

Answer 7

amiloride

Question 8

pseudohypoaldosteronism affects what channel and how? what is this effect similar to?

Answer 8

inactive ASC
like amiloride diuretics

Question 9

effects of pseudohypoaldosteronism?

Answer 9

Na+ loss, K+ retention, high aldosterone

Question 10

why does pseudohypoaldosteronism cause high aldosterone but symptoms mimic low aldosterone

Answer 10

aldosterone is trying to correct the problem, but can’t with no working ASC. therefore symptoms mimic lack of aldosterone

Question 11

effects of inactivating mutations of aquaporins?

Answer 11

nephrogenic diabetes insipidus (polyuria, polydipsia)

Question 12

problems outside the kidney - effects of addisons disease? why!

Answer 12

loss of Na+, hyperK+, hypovolaemia

due to destruction of adrenal glands resulting in less aldosterone

Question 13

what drug is the effects of addisons disease on the kidneys similar to

Answer 13

spironolactone

Question 14

psychogenic polydipsia effects? why?

Answer 14

whole body hypo-osmolarity (because kidneys can only filter so much)

Question 15

components of semen

Answer 15

testis - sperm
prostate - citric acid, enzymes, acidic proteins
sem ves - fructose, basic proteins

Question 16

male development of nephric and Mullerian ducts?

Answer 16

indifferent gonad develops testis cords
cords connect to mesonephric tubules (forming epididymis)
Mullerian duct regresses
distal nephric tube sprouts seminal vesicles (part of nephric duct distal to this is ejaculatory duct)
urethra sprouts prostate and bulbourethral glands

Question 17

female development of nephric and Mullerian ducts?

Answer 17

indifferent gonad develops into ovary
upper Mullerian ducts become fallopian tubes
Mullerian ducts converge and fuse to become uterovaginal canal
nephric ducts and mesonephros degenerates
uterovaginal canal forms uterus and upper part of vagina (lower part from urogenital sinus)

Question 18

renal agenesis types? features?

Answer 18

bilateral - no kidneys form. rare and fatal after birth. lack of amniotic fluid causes Potter’s Facies

unilateral - one kidney missing. common (1/500). often no clinical implications

Question 19

Potter’s Facies features?

Answer 19

flat nose
flat chin
ears against head

Question 20

Potter’s Facies explanation?

Answer 20

no amniotic fluid as this is foetal urine (so not present in bilateral renal agenesis)
amniotic fluid usually acts as shock absorber, therefore child pressed against uterine wall causing appearance of everything being ‘pushed back’

Question 21

congenital cystic disease features?

Answer 21

autosomal dominant
normal kidney tissue obliterated by cysts.
detectable in first few decades of life, becomes a problem in middle age

Question 22

supernumerary ureter features and complications?

Answer 22

two ureters branching off kidney.
if ureter joins urethra distal to bladder, urine flow is constant. UTIs can easily backtrack to kidney

Question 23

pelvic kidneys features?

Answer 23

failure a kidney to ascend or fused kidneys forming a horseshoe shape. not usually a problem unless pregnant

Question 24

congenital abnormalities of cloacal development?

Answer 24

can result in
rectovaginal/rectoprostatic fistula
rectoclocal canal (rectum, vagina and urethra unite in body
hypospadias in males (incomplete migration of urethral groove from base of penis to tip)

Question 25

what is the cloaca

Answer 25

common opening in embryo to which gut, urethra and vagina if (present) all empty, before these are separated by folds