4 Tubular Function

Question 1

Familial renal glucosuria

Answer 1

mutations in Na+/ glucose symporter SGLT2
relatively benign
normal blood glucose but high urine glucose due to impaired reabsorption

Question 2

Gout

Answer 2

high levels uric acid in plasma (hyperurcaemia)
forms crystals which form inflammatory deposits frequently in joints
overproduction uric acid or decreased renal excretion of uric acid (increased reabsorption/ decreased secretion urate in prox tubule)

Question 3

type 2 renal tubular acidosis (RTA)- proximal RTA

Answer 3

impaired ability to reabsorb bicarbonate
most frequently in children part of Fanconi’s syndrome
chronic acidity can lead to growth retardation, kidney stones, bone disease and progressive renal failure