Introduction: Liddle syndrome is an autosomal dominant disorder characterized by hypertension, hypokalemia, low aldosterone levels, and reduced renin activity. Atypical Liddle syndrome can be easily misdiagnosed due to its clinical phenotypes resembling hyperaldosteronism.
Patient Concern: The patient was diagnosed with primary aldosteronism due to hypertension and hypokalemia, and underwent left adrenalectomy. After the operation, the patient still had hypertension and hypokalemia that were not easy to control and correct, and had acute cerebral infarction.
Diagnosis: The genetic test showed that the base duplication in the coding region of SCN1B gene caused a frameshift mutation:c.1789dupC (p.Arg597fs), Liddle syndrome was diagnosed.
Intervention And Outcomes: The patient was treated with a low-sodium diet and oral triamterene. The serum potassium level returned to normal and the blood pressure was controlled.
Lessons: Some Liddle syndrome may present with normal aldosterone levels, genetic testing is necessary for the diagnosis. If the diagnostic test of primary aldosteronism is positive, but the treatment with spironolactone is ineffective, we should actively search for other causes.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10681548 | PMC |
| http://dx.doi.org/10.1097/MD.0000000000035944 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A parent and child with Liddle syndrome diagnosed correctly with the child as the proband: a case report with review of literature.
Endocr J
November 2024
Department of Pediatrics, Kagoshima University Hospital, Kagoshima 890-8520, Japan.
Liddle syndrome (LS) is an autosomal dominant genetic disorder characterized by early onset hypertension, hypokalemia, and low plasma aldosterone or renin concentration. It is caused by mutations in subunits of the epithelial sodium channel (ENaC). The clinical phenotypes of LS are variable and nonspecific, making it prone to both misdiagnosis and missed diagnosis.
View Article and Find Full Text PDFYoung Athlete With Hypertension and Hypokalemia.
Hypertension
November 2024
Department of Nephrology, INSERM EnVI U1096, CHU Rouen, CIC-CRB 1404 (D.G.), University of Rouen Normandy, France.
We describe a 17-year-old woman diagnosed with severe hypertension during routine follow-up after the prescription of a combined oral contraceptive pill. Initially, due to her age, the estradiol-containing contraception, and high-level sport practice, physicians suspected drug-induced hypertension. Blood tests showed hypokalemia, and further investigations revealed pseudoaldosteronism.
View Article and Find Full Text PDF3--18-Glycyrrhetinic Acid or Its Glucuronide, the Metabolites of Glycyrrhizinic Acid with Individual Differences, Correlated with Diagnostic Marker for Licorice-Induced Pseudoaldosteronism in Humans.
Drug Metab Dispos
November 2024
Department of Pharmacognosy, Graduate School of Pharmaceutical Sciences, Nagoya City University, 3-1 Tanabe-Dori, Mizuho-ku, Nagoya, Japan (R.S., K.I., Y.T., T.M.); Center for Kampo Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, Japan (T.Y., K.F., K.W.); Department of Japanese Oriental (Kampo) Medicine, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Japan (T.N.); Department of Japanese Traditional (Kampo) Medicine, Kanazawa University Hospital, 13-1 Takaramachi, Kanazawa-City, Ishikawa, Japan (K.O.-O.); Kampo Clinical Center, Hiroshima University Hospital, 1-2-3, Kasumi, Minami-ku, Hiroshima, Japan (K.O.-O.); Department of Oriental Medicine, Kameda Medical Center, 929 Higashi-cho, Kamogawa, Chiba, Japan (K.M.); Division of Pulmonary Medicine, Department of Medicine, Keio University School of Medicine, Tokyo, Japan (K.F.)
Article Synopsis
- Licorice is commonly used in traditional Japanese medicine and as a sweetener, but it can cause a side effect known as pseudoaldosteronism (PsA), which leads to symptoms like low potassium, high blood pressure, and fluid retention.
- A study examined 78 patients using Kampo medicines with licorice, finding multiple glycyrrhizinic acid metabolites in their blood and urine, including some newly identified ones.
- Individual differences were noted in the levels of these metabolites, suggesting they may influence susceptibility to PsA, with specific metabolites like 3--GA and 3-GA30G potentially playing a significant role.
Cyclic Adenosine Monophosphate Signaling in Chronic Kidney Disease: Molecular Targets and Therapeutic Potentials.
Int J Mol Sci
August 2024
Department of Nephrology, Ghent University Hospital, 9000 Ghent, Belgium.
Chronic kidney disease (CKD) is characterized by a steady decline in kidney function and affects roughly 10% of the world's population. This review focuses on the critical function of cyclic adenosine monophosphate (cAMP) signaling in CKD, specifically how it influences both protective and pathogenic processes in the kidney. cAMP, a critical secondary messenger, controls a variety of cellular functions, including transcription, metabolism, mitochondrial homeostasis, cell proliferation, and apoptosis.
View Article and Find Full Text PDFLiddle Syndrome with a SCNN1A Mutation: A Case Report and Literature Review.
Kidney Blood Press Res
October 2024
Department of Endocrinology and Metabolism, The Second People's Hospital of Guiyang, Guiyang, China.
Article Synopsis
- Liddle syndrome is a genetic condition that causes early-onset high blood pressure, low potassium levels, and other hormonal imbalances due to mutations in genes responsible for sodium channels, primarily SCNN1A.
- A case from China involved a 59-year-old man with a long history of uncontrolled hypertension and low potassium, which was linked to a rare mutation in the SCNN1A gene identified through genetic testing.
- The patient showed significant improvement in potassium levels and blood pressure after treatment with triamterene, highlighting the importance of genetic testing in diagnosing conditions like Liddle syndrome.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!