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🫀Molecular mechanisms involved in the different types of monogenic hypertension (thread)👇
🫀Molecular mechanisms involved in the different types of monogenic hypertension (thread)👇
🔹Gordon syndrome
▪️Autosomal dominant: WNK1 (GoF), WNK4 (LoF)
▪️AKA Pseudohypoaldosteronism Type II
▪️⬇️renin, normal/⬆️aldosterone (mimicking biochemically mild primary aldosteronism), BUT hyperkalemia
▪️Metabolic acidosis, hypercalciuria,⬇️UNa
▪️Rx: low dose thiazide
▪️Autosomal dominant: WNK1 (GoF), WNK4 (LoF)
▪️AKA Pseudohypoaldosteronism Type II
▪️⬇️renin, normal/⬆️aldosterone (mimicking biochemically mild primary aldosteronism), BUT hyperkalemia
▪️Metabolic acidosis, hypercalciuria,⬇️UNa
▪️Rx: low dose thiazide
🔹Liddle syndrome
▪️SCNN1A/B/G (GoF), dominant
▪️⬇️renin/aldosterone/K, alkalosis
▪️Spectrum: mild to severe
▪️Rx: low salt diet and ENaC inhib. (amiloride, triamterene)
▪️SCNN1A/B/G (GoF), dominant
▪️⬇️renin/aldosterone/K, alkalosis
▪️Spectrum: mild to severe
▪️Rx: low salt diet and ENaC inhib. (amiloride, triamterene)
