medc004 syndromes/diseases

Fanconi’s

PCT cell dysfunction, renal tubular acidosis type I

Goodpasture’s

antibodies attack kidneys

Cushing’s

increased ACTH + cortisol

Nelson’s

both adrenal glands removed but ACTH still created

Addison’s

inadequate secretion of adrenal cortex hormones

phaeochromocytoma

adrenal medulla tumour secreting catecholeamines

congenital adrenal hyperplasia

lack of enzyme in synthesis of cortisol/aldosterone — excess androgens

Bartter

any 3 of the transporters in TALH downregulated

Gitelman’s

NaCl transporter in DCT downregulated

EAST

basolateral K+ transporter in DCT downregulated

Liddle

increased activity of ENaC in CCD

pseodohypoaldosteronism

decreased activity of ENaC in CCD

SIADH

upregulation of ADH receptors