Overview
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Liddle syndrome is a genetic disorder characterized by low-renin hypertension that appears early in life. It is caused by mutations affecting the epithelial sodium channel (ENaC) located in the collecting duct of the nephron. The most common presentation of this disease is early onset hypertension, hypokalemia, metabolic alkalosis with suppressed plasma renin activity and low plasma aldosterone. Despite this typical phenotype, the disease can be clinically heterogeneous, even with mild phenotypes. It is transmitted in an autosomal dominant pattern.
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The Igenomix Liddle Syndrome Precision Panel can be used to make a directed differential diagnosis of resistant hypertension ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of medical care with potassium-sparing diuretics and surveillance for complications of hypertension.
- Risk assessment of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
References
Tetti, M., Monticone, S., Burrello, J., Matarazzo, P., Veglio, F., Pasini, B., Jeunemaitre, X., & Mulatero, P. (2018). Liddle Syndrome: Review of the Literature and Description of a New Case. International journal of molecular sciences, 19(3), 812. https://doi.org/10.3390/ijms19030812
Enslow, B. T., Stockand, J. D., & Berman, J. M. (2019). Liddle’s syndrome mechanisms, diagnosis and management. Integrated blood pressure control, 12, 13–22. https://doi.org/10.2147/IBPC.S188869
Warnock D. G. (2001). Liddle syndrome: genetics and mechanisms of Na+ channel defects. The American journal of the medical sciences, 322(6), 302–307. https://doi.org/10.1097/00000441-200112000-00002
Yang, K. Q., Xiao, Y., Tian, T., Gao, L. G., & Zhou, X. L. (2014). Molecular genetics of Liddle’s syndrome. Clinica chimica acta; international journal of clinical chemistry, 436, 202–206. https://doi.org/10.1016/j.cca.2014.05.015
Cui, Y., Tong, A., Jiang, J., Wang, F., & Li, C. (2017). Liddle syndrome: clinical and genetic profiles. Journal of clinical hypertension (Greenwich, Conn.), 19(5), 524–529. https://doi.org/10.1111/jch.12949