lecture 5 (renal) Flashcards
(34 cards)
where does bicarb reabsorption occur?
- proximal tubule
what occurs when a mutation in NHE3 arises?
- proximal renal tubular acidosis (RTA)
- where bicarbonate isn’t properly reabsorbed by the kidneys filtering system
what is an example of an amino acid transporter?
- SLC3A1
- SLC7A9
what proteins are needed for albumin reabsorption?
- CUBN
- AMN
what do these proteins do?
- bind with vitamin B12 and intrinsic factor
- failure to fi=unction leads to B12 anemia and proteinuria
what does a functional loss of CIC-5 do?
- leads to trafficking defect in proximal tubule cells
- hypercalcuria, kidney stones
- phosphourea
what is a syndrome associated with the thick ascending limb?
- bartter syndrome
what is bartter syndrome?
- renal tubular salt wasting disorder
- kidneys cant reabsorb sodium and chlorine in thick ascending limb
what does bartter syndrome increase the risk of?
- hypotension
- electrolyte loss
- occurs in womb to foetus so requires ICU
what channel causes the mutation leading to bartters syndrome?
- NKCC2
- CLCNKB
which two types of bartter syndrome occur prematurely?
- type 1
- type 2
what does type 1 Bartter syndrome occur due to?
- mutations in sodium chloride cotransporter gene (NKCC2)
what does type 2 Bartter syndrome occur due to?
- mutations in ROMK gene
what does type 3 Bartter syndrome occur due to?
- mutations in chloride channel gene (CLC-Kb)
what does type 4 Bartter syndrome occur due to?
- loss of function mutations in gene encoding barttin
what is gitelman syndrome?
- mutation in NCC in distal convoluted tubule
- autosomal recessive salt loosing tubulopathy
what is gitelman syndrome characterised by?
- hypokalaemia
- metabolic alkalosis
- hypocalciuria
- hypomagnesemia
- hyperreninemic hyperaldosteronism
what are the symptoms of gitelmans syndrome?
- fatigue
- muscle weakness
- muscle cramps
- GI problems (abdominal pain, nausea, vommiting)
what does a mutation in the basolateral KCNJ10 channel cause?
- EAST/SESAME syndrome
what is EAST/SESAME syndrome?
- epilepsy
- ataxia (effects coordination)
- sensorineural deafness
- tubulopathy
- seizures
- sensorineural deafness
- ataxia
- mental retardation
- electrolyte imbalances
what is Gordons syndrome?
- NCC works too much (activating mutation causing to stay on too long)
- mutations in WNK4, WNK1, KELCHL3, CUL3 (work to activate NCC)
what does Gordons syndrome cause?
- hypertension
- affects movement in joints of upper and lower limbs
- clubfoot
- cleft palate
- camptodactyly
what is the disease/disorder associated with the collecting duct?
- liddle syndrome
what is liddle syndrome?
- ENaC is overactiviated so too much
- mutations occur in SCNN1B and SCNN1G
