Liddle syndrome and Gordon syndrome are two rare single-gene inherited hypertension diseases. In patients≤40 years, the prevalence of Liddle syndrome is about 1% and Gordon syndrome is uncertain all over the word, for which is often misdiagnosed and mistreated. The therapies of those diseases are targeted at gene mutation sites, as well as combined with modified lifestyle, and can achieve satisfactory diseases control. This paper reports a patient who is diagnosed with Liddle syndrome and Gordon syndrome at the same time. We aimed to consolidate and improve the diagnosis and accurate treatment of those two diseases by sharing, studying and discussing together with clinical doctors.
Gordon syndrome is a rare monogenic hypertensive disease with low incidence and high clinical heterogeneity. As so far, genetic diagnosis of Gordon syndrome is rarely reported. We reported a case of Gordon syndrome caused by a novel WNK1 mutation [c.3029G>A (p.Gl1010Glu)]. The patient, a 21-year-old female, was found to have elevated blood pressure during physical examination. After treatment with thiazide diuretics, the patient was diagnosed as Gordon syndrome. This case expanded the mutant spectrum of Gordon syndrome and provided evidence for its different clinical manifestations, aiming to study and discuss with clinicians to improve the understanding of monogenic hypertension.