congenital disorders W1 Flashcards
dont have to remember syndrome names and effects, this would be given in an exam (too rare).
Bartter’s syndrome affects which SLC? what is this effect similar to?
impaired SLC12A2 (Cl- K+ & Na+ uptake)
like a loop diuretic
effects of Bartter’s syndrome
loss of Na+ & K, much H2O, hypercalcuria
Gitelman’s syndrome affects which SLC? what is this effect similar to?
SLC12A3 (Cl- & Na+ uptake)
like thiazides!
effects of Gitelman’s syndrome?
loss of Na+ K+ & H2O
hypocalcuria
Liddle’s syndrome affects which channel and how?
hyperactive ASC
effects of Liddle’s syndrome?
body volume expansion, hypertension
what is Liddle’s syndrome treated by?
amiloride
pseudohypoaldosteronism affects what channel and how? what is this effect similar to?
inactive ASC
like amiloride diuretics
effects of pseudohypoaldosteronism?
Na+ loss, K+ retention, high aldosterone
why does pseudohypoaldosteronism cause high aldosterone but symptoms mimic low aldosterone
aldosterone is trying to correct the problem, but can’t with no working ASC. therefore symptoms mimic lack of aldosterone
effects of inactivating mutations of aquaporins?
nephrogenic diabetes insipidus (polyuria, polydipsia)
problems outside the kidney - effects of addisons disease? why!
loss of Na+, hyperK+, hypovolaemia
due to destruction of adrenal glands resulting in less aldosterone
what drug is the effects of addisons disease on the kidneys similar to
spironolactone
psychogenic polydipsia effects? why?
whole body hypo-osmolarity (because kidneys can only filter so much)
components of semen
testis - sperm
prostate - citric acid, enzymes, acidic proteins
sem ves - fructose, basic proteins
male development of nephric and Mullerian ducts?
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
female development of nephric and Mullerian ducts?
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)
renal agenesis types? features?
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
Potter’s Facies features?
flat nose
flat chin
ears against head
Potter’s Facies explanation?
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’
congenital cystic disease features?
autosomal dominant
normal kidney tissue obliterated by cysts.
detectable in first few decades of life, becomes a problem in middle age
supernumerary ureter features and complications?
two ureters branching off kidney.
if ureter joins urethra distal to bladder, urine flow is constant. UTIs can easily backtrack to kidney
pelvic kidneys features?
failure a kidney to ascend or fused kidneys forming a horseshoe shape. not usually a problem unless pregnant
congenital abnormalities of cloacal development?
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)
what is the cloaca
common opening in embryo to which gut, urethra and vagina if (present) all empty, before these are separated by folds
