Liddle

Bartter

Gitelman

Blood pressure

Høj

Normal/lav

Normal/lav

Aldosterone

Lav

Høj

Let forhøjet (el. normal)

Renin

Lav

Høj

Let forhøjet (el. normal)

Specific feature

Responds to ENaC blockers (not spironolactone)

Urine Ca ­

Urine chloride ­

(Nephrocalcinosis)

Urine Ca ¯

Hypomagnesaemia

Mutation in

ENaC

NKCC2, ROMK, ClC-Kb, barttin, CaSR, ClC-Ka

Na-Cl cotransporter (NCC)

Location of problem

Distal nephron

Thick ascending
loop of Henle

Distal convuluted tubule

Inheritance

Autosomal dominant,
early penetrance

Autosomal recessiv

Autosomal recessiv

Behandling

K
ENaC blokkere (amilorid)

K.  ACE hæmmer, ARB. Amilorid, spironolactone. Mg. Nyre Tx.

K + Mg

Prævalens

30 fam. i verden i 2008

1:1.000.000

1:40.000