Inherited renal tubulopathies - clinical/biochemical pattern recognition (Gitelman, Bartter, Liddle, Gordon)
Core concept
- Recognise them by two axes: blood pressure, and the acid-base/potassium pattern
- Hypokalaemic metabolic alkalosis + LOW/normal BP -> Bartter, Gitelman (loop/thiazide phenocopies)
- Hypokalaemic metabolic alkalosis + HYPERTENSION -> Liddle, AME, GRA, CAH (11-beta/17-alpha)
- Hyperkalaemic metabolic ACIDOSIS + HYPERTENSION -> Gordon (pseudohypoaldosteronism type 2)
- Each syndrome mimics a diuretic - name the diuretic and the biochemistry follows
| Syndrome | Transporter | Diuretic mimicked | Segment |
|---|---|---|---|
| Bartter | NKCC2 (+ ROMK, ClC-Kb, barttin, CaSR) | Frusemide | Thick ascending limb |
| Gitelman | NCCT (SLC12A3) | Thiazide | Distal convoluted tubule |
| Liddle | ENaC gain of function | Opposite of amiloride | Collecting duct |
| Gordon | WNK1/WNK4, KLHL3, CUL3 -> inc NCCT | Opposite of thiazide | DCT |
3 more sections, plus exam facts
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