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
* fatigue
* constipation
* heart palpitations
* metabolic alkalosis
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