Table 2 Comparison of described mutations in SCNN1G gene. The asterisk marks mutation described in this case report

c.1589A > G, p.Asn530Ser (N530S)

Finnish family: affected mother and son.

Proband - 25-year-old man with hypertension, hypokalemia, low plasma renin activity and low serum aldosterone levels.

Responded to amiloride or triamterene treatment [26].

c.1699C > T, p.Gln567Ter (Q567X)

Chinese family: 3 affected members [27].

c.1711G > T, p.Glu571Ter (E571X)

Chinese family: 5 affected members with hypertension, hypokalemia, low plasma renin activity and low serum aldosterone levels.

Responded to amiloride treatment [28, 29].

c.1718G > A, p.Trp574Ter (W574X)

Japanese family: 4 affected members.

Proband - 17-year-old woman with hypertension, hypokalemia, low plasma renin activity and low serum aldosterone levels.

Responded to triamterene treatment and low-sodium diet [30].

c. 1724G > A, p.Trp576Ter (W576X)

Japanese family: de novo mutation

Proband: 43-year-old woman with hypertension, metabolic alkalosis, hypokalemia, low plasma renin activity and low serum aldosterone levels.

Responded to triamterene treatment [31].

c.1749_1753del, p.Glu583Aspfs (E583Dfs)

Chinese male patient with hypertension, metabolic alkalosis, hypokalemia, low plasma renin activity and normal serum aldosterone levels.

Responded to triamterene treatment and low-sodium diet [32].

*c.1769delG, p.Gly590Alafs (G590A)

Russian family: 3 affected members

Proband: 15-years-old boy with hypertension, hypokalemia, metabolic alkalosis, low plasma renin activity and normal serum aldosterone level

Partially responded to amiloride treatment