The clinical data, laboratory test, and gene mutations were collected from a family with Liddle syndrome. Literatures on Liddle syndrome published in domestic and abroad since 1994 were reviewed and the types of gene mutations were summarized. The proband was diagnosed with hypertension at the age of 24. Laboratory test showed that serum potassium was 3.65 mmol/L, plasma renin was <0.5 mU/L, and plasma aldosterone was 1.5 ng/dL. Proband′s father was diagnosed with hypertension at the age of 34 with the serum potassium 3.34 mmol/L, plasma renin 3.72 mU/L, and plasma aldosterone 6.04 ng/dL. A nonsense mutation(1724G>A, p.Trp575*) in exon 13 of SCNN1G gene was detected in the proband and his father. In 288 cases from 107 families reported in the review of domestic and foreign literature, the incidence of hypertension, hypokalemia, and low renin/low aldosterone were 95.1%, 55.2%, and 49.6%, respectively. This case suggests that the clinical phenotype of Liddle syndrome is heterogeneous. Patients with early-onset hypertension, regardless of whether they are accompanied by hypokalemia, should be screened for renin-angiotensin-aldosterone and genetic testing related to Liddle syndrome should be further detected in patients with low plasma renin/aldosterone.

Objective:To investigate the association between the levels of serum TSH receptor autoantibodies (TRAb) and thyroid-associated ophthalmopathy (TAO) activity/severity scores.Methods:A retrospective analysis was conducted on the data of TAO in Chinese PLA General Hospital from August 1993 to December 2020, and the Correlation between the levels of TRAb and TAO activity/severity scores was analyzed.Results:(1) A total of 180 patients aged 18 years or older with eye disease course ≤18 months and serum TRAb results were included. The onset age of TAO was 46.06±12.47 years, including 84 males and 96 females. The duration of TAO was 5.0(3.0, 9.0)months. CAS scores ≥3 points were 93 cases. NOSPECS grades by American Thyroid Association ≥4 were 165 cases. According to European Group on Graves′ Orbitopathy(EUGOGO) guidelines, 72 cases were mild, 98 cases were moderate-to-severe, and 10 cases were sight-threatening. (2) The serum TRAb levels of patients with moderate-to-severe/sight-threatening and active TAO based on EUGOGO guidelines was significantly higher than that of mild and inactive patients [12.8 (4.0, 30.1) U/L vs. 6.2(3.2, 14.8) U/L, P=0.004], [12.6 (3.4, 31.0) U/L vs. 6.5(3.4, 17.6) U/L, P=0.006]. There was no significant difference in serum TRAb levels between patients with NOSPESC grades ≥4 and <4. (3) There was no statistical difference between positive rates of serum TRAb and TAO activity/severity scores. (4) Univariate regression analysis showed that serum TRAb levels were associated with increased risk of moderate-to-severe and sight-threatening ( OR=2.02, P=0.001) and activity ( OR=1.5, P=0.016). Multivariate regression analysis showed that this association still existed. Conclusions:Serum TRAb levels are associated with the activity and severity of TAO. With antibody levels increasing, patients may be at increased risk of progression to active and moderate-to-severe/sight-threatening grade.

Thyroid-associated ophthalmopathy(TAO)is an organ-specific autoimmune disease. A series of symptoms related to it cause serious harm to the physical and mental health of patients, and then seriously affect their quality of life. However, there is stilly lack of specific treatment methods at present. Even after effective treatment, it is difficult to fully recover the appearance changes. Therefore, it is very important to avoid or reduce the risk factors associated with the occurrence and progress of TAO. Hypercholesterolemia, as one of the potential risk factors for the occurrence and progression of TAO, has been concerned by more clinical researchers. Recent studies have found that statins can significantly reduce the incidence of ophthalmopathy and the risk of ophthalmopathy progression in patients with Graves disease. Based on the inflammatory pathological mechanism of TAO, statins may become a new hope to prevent and delay the occurrence and progression of TAO.