Newsletter

Pol. Merkur. Lek (Pol. Med. J.), 2019, XLVII/281: 190-192 Maximize

Pol. Merkur. Lek (Pol. Med. J.), 2019, XLVII/281: 190-192

Title: Liddle syndrome as a rare cause of hypertension – a case report 

Authors: Bielawska-Niekludow J, Rybi-Szumińska A, Wasilewska A. 

More details

06/281

40,00 zł

SUMMARY IN POLISH & ENGLISH. FULL ARTICLE ONLY IN POLISH.

Liddle syndrome as a rare cause of hypertension – a case report


Bielawska-Niekludow J, Rybi-Szumińska A, Wasilewska A.

Department of Pediatrics and Nephrology, Children’s Clinical Hospital, Medical University of Bialystok, Poland

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.

Key words: Liddle syndrome, SCNN1A mutation, SCNN1B mutation, SCNN1G mutation, hypertension

Pol Med J, 2019; XLVII (281); 190–192