PATH - Renal tubular defects

Question 1

Fanconi syndrome

Answer 1

reabsorptive defect in *PCT

Associated with  excretion of nearly all amino acids, glucose, HCO3–, and PO43–.

May result in metabolic acidosis (proximal renal tubular acidosis).

Question 2

Bartter syndrome

Answer 2

Autosomal recessive

Reabsorptive defect in *thick ascending loop of Henle

Affects Na+/K+/2Cl–
cotransporter

hypokalemia
metabolic alkalosis with hypercalciuria

Question 3

Gitelman syndrome

Answer 3

Autosomal recessive

Reabsorptive defect of NaCl in *DCT

Less severe than Bartter syndrome

hypokalemia
hypomagnesemia
hypocalciuria
metabolic alkalosis

Question 4

Liddle syndrome

Answer 4

Autosomal dominant

*INC Na+ reabsorption in *collecting tubules

hypertension
hypokalemia
metabolic alkalosis,
DEC aldosterone