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[Liddle syndrome as a rare cause of hypertension - a case report]
Joanna Bielawska-Niekludow1, Agnieszka Rybi-Szumińska1, Anna Wasilewska1
1Department of Pediatrics and Nephrology, Children's Clinical Hospital, Medical University of Bialystok Poland.
Abstract:
Liddle syndrome is an uncommon genetic disorder featuring hypertension, hypokalemia, metabolic alcalosis, decreased rennin and aldosterone secretion. It is caused by a point mutation of a gene encoding one of the three subunits of the epithelial sodium channel (ENaC). Because of its rarity, the availability of the literature on the diagnosis of this syndrome is limited.
A Case Report:
The 14 years old adolescent with resistant hypertension was analyzed genetically, because of the family history. The significance of it and biochemical findings in recognition of Liddle Syndrome was discussed. It has been concluded that performing a genetic test at the suspicion of monogenic background of hypertension allows for accurate and effective treatment.
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