Liddle's Syndrome

 






  • it's inherited form of hypertension

  • it's inherited in the form of Autosomal dominant pattern
  • it's caused by mutation in the  SCNN1A, SCNN1B, SCNN1G genes
  • these genes provide instruction for making subunit of protein complex called epithelial sodium channel ( ENaC ) may found on surface of kidney cells

  • Normally ENaC open in response to signals that Na level in the blood is too low, which allow reabsorption of Na back to the bloodstream

  • if mutations occure, the ENaC will increase on cell surface leading to increase Na reabsorption and K exceartion



Features :- 
  • Begins usually early in life often in the childhood, some people aren't diagnosed until adulthood
  • may be no additional signs or symptoms, but overtime if untreated, may develop heart disease or cerebrovascular accidents
  • may suffer from signs and symptoms of hypokalemia as
                                      * muscle weakness

                                      * fatigue

                                      * constipation

                                      * heart palpitations

                                     * metabolic alkalosis
                           

Differential diagnosis of Hematuria