Monogenic Symptoms Mechanism Causing Mutation in: Mode of Mineral Balance

Disease Disease Inheritance

Glucocorticoid- Hypertension Increased activity Promoter region Autosomal Hypokalemia,
Remediable Normal or of Enac: K+ of aldosterone Dominant metabolic
Hyperaldosteroni elevated secretion and Na+ gene, creating alkalosis
sm Aldosterone absorption chimeric gene
Suppressed Increased activity that synthesizes
Plasma Renin of intercalated aldosterone when
Activity (PRA) cells: H+ secretion its inhibitors
and K+ absorption (glucocorticoids)
(stimulated when are low
K+ levels in body
are low)

Bartter Syndrome Hypotension High luminal Loss of function Autosomal Hypokalemia

charge increases in: Na/K/2cl Recessive Metabolic
Ca+ absorption. transporter Alkalosis
Low K+ levels Apical K+ Hypercalciuria
stimulate the channel
intercalated cells Basolateral Cl
H+/K+ channel

Liddle Syndrome Early-onset Increased Enac ENac (beta or Autosomal Hypokalemia,

hypertension activity on principal gamma subunit Dominant metabolic
Suppressed cells due to that leads to Alkalosis
PRA increase channels deletion of
on apical cytoplasmic C
membrane termini)
Syndrome of Hypertension High cortisol levels: Loss of function Autosomal Hypokalemia
Apparent Suppressed cortisol binds to of 11b- Recessive Metabolic
Mineralocorticoid PRA Aldosterone hydroxysteroid Alkalosis
Excess (AME) Suppressed receptor and DH:
aldosterone mimics its activity Unable to convert
Trt w/: Cortisol to
mineralocortico cortisone
id receptor
antagonists