ArticleJournal of clinical hypertension (Greenwich, Conn.)2017
Liddle syndrome: clinical and genetic profiles.
Article in Journal of clinical hypertension (Greenwich, Conn.), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- A frameshift mutation in theMolecular medicine reports · 2024Pooled it
- Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension.American journal of hypertension · 2020Pooled it
- Liddle syndrome caused by SCNN1B mutation presenting with severe early-onset hypertension and hypokalemia in an adolescent: a case report.BMC endocrine disorders · 2026Article
- Liddle Syndrome Presenting as Hypertensive Crisis and Myocardial Injury in a Young Male: A Case Report.Case reports in nephrology · 2026Article
- Adrenal causes of endocrine hypertension in childhood or adolescence.Journal of endocrinological investigation · 2025Review
- Heart Transplantation in a Patient With Liddle Syndrome.JACC. Case reports · 2025Article
- Genetic background of neonatal hypokalemia.Pediatric nephrology (Berlin, Germany) · 2025Review
- Challenges in diagnosing and treating Liddle syndrome in resource-limited settings: A case report from Indonesia.Narra J · 2024Article
- Monogenic Hypertension Linked to the Renin-Angiotensin-Aldosterone System.Anatolian journal of cardiology · 2024Article
- Genetics of Hypertension: From Monogenic Analysis to GETomics.Journal of cardiovascular development and disease · 2024Review
- Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension.International journal of hypertension · 2023Review
- Focus on adrenal and related causes of hypertension in childhood and adolescence: Rare or rarely recognized?Archives of endocrinology and metabolism · 2022Review
- A narrative review of Hyporeninemic hypertension-an indicator for monogenic forms of hypertension.Pediatric medicine (Hong Kong, China) · 2022Article
- Activation by cleavage of the epithelial NaeLife · 2022Article
- Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation ofFrontiers in pediatrics · 2022Article
- A Novel Frame-Shift Mutation inFrontiers in cardiovascular medicine · 2022Article
- Hypokalemia and hypertensive urgency in a 10-year-old boy: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- Genetic renal disease classification by hormonal axes.Pediatric nephrology (Berlin, Germany) · 2020Review
- Hypertensive Crisis in Pediatric Patients: An Overview.Frontiers in pediatrics · 2020Review
- Overview of Monogenic or Mendelian Forms of Hypertension.Frontiers in pediatrics · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Liddle syndrome is a rare autosomal dominant monogenic form of hypertension. The authors analyzed clinical and genetic features of 12 cases of Liddle syndrome, the largest sample size ever reported. Clinical data were studied retrospectively. The exon 13 of the β and γ subunits of the epithelial sodium channel were amplified and sequenced in the peripheral blood leukocytes of the patients. The onset age of the 12 patients was 15.5±3.3 years. Their blood pressures were poorly controlled, and serum potassium levels in most patients were <3.0 mmol/L. Upright plasma renin activity and plasma aldosterone concentration were suppressed in all patients. All patients were treated with triamterene, and blood pressures were well controlled and serum potassium levels returned to normal. The serum creatinine level rose to 124 and 161 μmol/L, respectively, in two patients upon triamterene treatment, and returned to normal soon after treatment was discontinued. Eight mutation alleles were identified, and three mutations were newly identified.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.