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Genomics Precision Diagnostic > Nephrology > Liddle Syndrome Precision Panel

Liddle Syndrome Precision Panel

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.
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • 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. 

  • 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.

Indication

  • The Igenomix Liddle Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of Liddle Syndrome presenting with: 
    • Family history of early onset hypertension or hypokalemia 
    • Hypertension at early age 
    • Hypokalemia 
    • Metabolic alkalosis

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. 

Genes & Diseases

Methodology

References

See scientific referrals

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 

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      • EMBRACE
      • PGT-A
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