Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.
BMC Nephrol
; 20(1): 389, 2019 10 26.
Article
in En
| MEDLINE
| ID: mdl-31655555
ABSTRACT
BACKGROUND:
Liddle syndrome is a monogenic disease with autosomal dominant inheritance. Basic characteristics of this disease are hypertension, reduced concentration of aldosterone and renin activity, as well as increased excretion of potassium leading to low level of potassium in serum and metabolic alkalosis. The cause of Liddle syndrome is missense or frameshift mutations in SCNN1A, SCNN1B, or SCNN1G genes that encode epithelial sodium channel subunits. CASE PRESENTATION We describe a family with Liddle syndrome from Russia. 15-year-old proband has arterial hypertension, hypokalemia, hyporeninemia, metabolic alkalosis, but aldosterone level is within the normal range. At 12 years of age, arterial hypertension was noticed for the first time. We identified novel frameshift mutation c.1769delG (p.Gly590Alafs) in SCNN1G, which encodes the γ subunit of ENaC in vertebrates. The father and younger sister also harbor this heterozygous deletion. Treatment with amiloride of proband and his sister did not normalize the blood pressure, but normalized level of plasma renin activity.CONCLUSIONS:
Our results expand the mutational spectrum of Liddle syndrome and provide further proof that the conserved PY motif is crucial to control of ENaC activity. Genetic analysis has implications for the management of hypertension, specific treatment with amiloride and counselling in families with Liddle syndrome.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Epithelial Sodium Channels
/
Liddle Syndrome
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
Asia
/
Europa
Language:
En
Journal:
BMC Nephrol
Journal subject:
NEFROLOGIA
Year:
2019
Document type:
Article
Affiliation country:
RUSSIA