Liddle syndrome
Authors:
Štěpán Mareš; Jan Filipovský
Authors place of work:
II. interní klinika LF UK a FN Plzeň
Published in the journal:
Vnitř Lék 2022; 68(E-8): 8-11
Category:
Review Articles
doi:
https://doi.org/10.36290/vnl.2022.115
Summary
Liddle syndrome is an inherited form of arterial hypertension with autosomal dominant pattern of inheritance. It is caused by activating mutation of genes coding of the epithelial sodium channel in distal nephron. Mutation leads to excessive reabsorbtion of sodium ions and volume expansion resulting in arterial hypertension. Antoher typical laboratory findings are hypokalaemia, low levels of serum aldosteron and metabolic alkalosis. Phenotypic variability makes it difficult to identify patients with Liddle syndrome, often resulting in misdiagnosis and severe complications at early age. Genetic studies should be done to confirm the diagnosis. Therapy of Liddle syndrome is based on administration of epithelial sodium channel blocker amilorid.
Keywords:
Aldosterone – arterial hypertension – hypokalaemia – amilorid – epithelial sodium channel – Liddle syndrome – NEDD4
Zdroje
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Štítky
Diabetology Endocrinology Internal medicineČlánok vyšiel v časopise
Internal Medicine
2022 Číslo E-8
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