Liddle syndrome (early-onset hypertension, hypokalemia, suppressed renin, low aldosterone)
Conditions
Interventions
Proband group:None
Sponsors
Fuzhou University Affiliated Provincial Hospital
Eligibility
Sex/Gender
All
Age
8 Years to 60 Years
Inclusion criteria
Inclusion criteria: 1.Proband carrying the SCNN1B heterozygous nonsense mutation confirmed by whole-exome sequencing; 2.Biological mother and younger brother of the proband; 3.Willing to participate and provide written informed consent (guardian consent for minors); 4.Able to provide peripheral blood sample for genetic validation;
Exclusion criteria
Exclusion criteria: 1.Refusal to participate or to provide informed consent; 2.Unable to provide peripheral blood sample; 3.Presence of other known monogenic hypertension (e.g., familial hyperaldosteronism, mutations in other Liddle syndrome-causing genes); 4.Severe cardiac, hepatic, renal dysfunction or malignancy that may confound the study results;
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Systolic/Diastolic blood pressure;SCNN1B genotype;serum potassium; | — |
Secondary
| Measure | Time frame |
|---|---|
| Plasma renin concentration;plasma aldosterone; | — |
Countries
China
Contacts
Public ContactLin Huirong
Fuzhou University Affiliated Provincial Hospital
Outcome results
None listed