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Liddle syndrome 3(LIDLS3)

MedGen UID:
1648443
•Concept ID:
C4748292
•
Disease or Syndrome
Synonyms: LIDDLE SYNDROME 3; LIDLS3
 
Gene (location): SCNN1A (12p13.31)
 
Monarch Initiative: MONDO:0029132
OMIM®: 618126

Definition

Liddle syndrome, or pseudoaldosteronism, is an autosomal dominant form of salt-sensitive hypertension characterized by suppressed plasma renin and aldosterone, hypokalemia, and metabolic alkalosis (summary by Salih et al., 2017). For a discussion of genetic heterogeneity of Liddle syndrome, see 177200. [from OMIM]

Clinical features

From HPO
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
Hypokalemia
MedGen UID:
5712
•Concept ID:
C0020621
•
Finding
An abnormally decreased potassium concentration in the blood.
See: Feature record | Search on this feature
Metabolic alkalosis
MedGen UID:
113134
•Concept ID:
C0220983
•
Pathologic Function
Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.
See: Feature record | Search on this feature
Decreased circulating aldosterone concentration
MedGen UID:
208996
•Concept ID:
C0857899
•
Finding
Abnormally reduced levels of aldosterone.
See: Feature record | Search on this feature
Decreased circulating renin concentration
MedGen UID:
337182
•Concept ID:
C1845206
•
Finding
An decreased level of renin in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Genetic testing helps to confirm the diagnosis and initiate appropriate treatment, a case of Liddle syndrome.
Pichurin PN, Schwartz GL
J Am Soc Hypertens 2017 Mar;11(3):134-135. Epub 2017 Jan 25 doi: 10.1016/j.jash.2017.01.003. PMID: 28229899
Phenotype-genotype analysis in two Chinese families with Liddle syndrome.
Gong L, Chen J, Shao L, Song W, Hui R, Wang Y
Mol Biol Rep 2014 Mar;41(3):1569-75. Epub 2014 Jan 29 doi: 10.1007/s11033-013-3003-7. PMID: 24474657
Diagnosis of hypokalemia: a problem-solving approach to clinical cases.
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Recent clinical studies

Etiology

Exploration for the real causative agents of licorice-induced pseudoaldosteronism.
Makino T
J Nat Med 2021 Mar;75(2):275-283. Epub 2021 Jan 22 doi: 10.1007/s11418-021-01484-3. PMID: 33481180Free PMC Article
Complement genes contribute sex-biased vulnerability in diverse disorders.
Kamitaki N, Sekar A, Handsaker RE, de Rivera H, Tooley K, Morris DL, Taylor KE, Whelan CW, Tombleson P, Loohuis LMO; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Boehnke M, Kimberly RP, Kaufman KM, Harley JB, Langefeld CD, Seidman CE, Pato MT, Pato CN, Ophoff RA, Graham RR, Criswell LA, Vyse TJ, McCarroll SA
Nature 2020 Jun;582(7813):577-581. Epub 2020 May 11 doi: 10.1038/s41586-020-2277-x. PMID: 32499649Free PMC Article
Liddle syndrome: clinical and genetic profiles.
Cui Y, Tong A, Jiang J, Wang F, Li C
J Clin Hypertens (Greenwich) 2017 May;19(5):524-529. Epub 2016 Nov 29 doi: 10.1111/jch.12949. PMID: 27896928Free PMC Article
Syndromes that Mimic an Excess of Mineralocorticoids.
Sabbadin C, Armanini D
High Blood Press Cardiovasc Prev 2016 Sep;23(3):231-5. Epub 2016 Jun 1 doi: 10.1007/s40292-016-0160-5. PMID: 27251484
Genetic disorders of potassium homeostasis.
Jain G, Ong S, Warnock DG
Semin Nephrol 2013 May;33(3):300-9. doi: 10.1016/j.semnephrol.2013.04.010. PMID: 23953807

Diagnosis

Young Adults With Hereditary Tubular Diseases: Practical Aspects for Adult-Focused Colleagues.
Alhasan K, D'Alessandri-Silva C, Mongia A, Topaloglu R, Tasic V, Filler G
Adv Chronic Kidney Dis 2022 May;29(3):292-307. doi: 10.1053/j.ackd.2021.11.004. PMID: 36084976
Genetic disorders of potassium homeostasis.
Jain G, Ong S, Warnock DG
Semin Nephrol 2013 May;33(3):300-9. doi: 10.1016/j.semnephrol.2013.04.010. PMID: 23953807
Diagnosis of hypokalemia: a problem-solving approach to clinical cases.
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223
The epithelial sodium channel in hypertension: genetic heterogeneity and implications for treatment with amiloride.
Swift PA, MacGregor GA
Am J Pharmacogenomics 2004;4(3):161-8. PMID: 15174897
Investigating mineralocorticoid hypertension.
Nussberger J
J Hypertens Suppl 2003 May;21(2):S25-30. doi: 10.1097/00004872-200305002-00005. PMID: 12929904

Therapy

Liddle syndrome: clinical and genetic profiles.
Cui Y, Tong A, Jiang J, Wang F, Li C
J Clin Hypertens (Greenwich) 2017 May;19(5):524-529. Epub 2016 Nov 29 doi: 10.1111/jch.12949. PMID: 27896928Free PMC Article
NEDD4-2 and salt-sensitive hypertension.
Rizzo F, Staub O
Curr Opin Nephrol Hypertens 2015 Mar;24(2):111-6. doi: 10.1097/MNH.0000000000000097. PMID: 25602517
Diagnosis of hypokalemia: a problem-solving approach to clinical cases.
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223
The epithelial sodium channel in hypertension: genetic heterogeneity and implications for treatment with amiloride.
Swift PA, MacGregor GA
Am J Pharmacogenomics 2004;4(3):161-8. PMID: 15174897
Investigating mineralocorticoid hypertension.
Nussberger J
J Hypertens Suppl 2003 May;21(2):S25-30. doi: 10.1097/00004872-200305002-00005. PMID: 12929904

Prognosis

A semi-physiologically based pharmacokinetic pharmacodynamic model for glycyrrhizin-induced pseudoaldosteronism and prediction of the dose limit causing hypokalemia in a virtual elderly population.
Xu R, Liu X, Yang J
PLoS One 2014;9(12):e114049. Epub 2014 Dec 2 doi: 10.1371/journal.pone.0114049. PMID: 25463381Free PMC Article
Phenotype-genotype analysis in two Chinese families with Liddle syndrome.
Gong L, Chen J, Shao L, Song W, Hui R, Wang Y
Mol Biol Rep 2014 Mar;41(3):1569-75. Epub 2014 Jan 29 doi: 10.1007/s11033-013-3003-7. PMID: 24474657
A physiologic-based approach to the treatment of a patient with hypokalemia.
Asmar A, Mohandas R, Wingo CS
Am J Kidney Dis 2012 Sep;60(3):492-7. doi: 10.1053/j.ajkd.2012.01.031. PMID: 22901631Free PMC Article
Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure.
Ariceta G, Rodríguez-Soriano J
Semin Nephrol 2006 Nov;26(6):422-33. doi: 10.1016/j.semnephrol.2006.10.002. PMID: 17275579
Dysphoric and depressive symptoms in chronic schizophrenia.
Hirsch SR, Jolley AG, Barnes TR, Liddle PF, Curson DA, Patel A, York A, Bercu S, Patel M
Schizophr Res 1989 May-Jun;2(3):259-64. doi: 10.1016/0920-9964(89)90002-9. PMID: 2577273

Clinical prediction guides

Analysis of clinical factors associated with Kampo formula-induced pseudoaldosteronism based on self-reported information from the Japanese Adverse Drug Event Report database.
Uneda K, Kawai Y, Kaneko A, Kayo T, Akiba S, Ishigami T, Yoshida-Komiya H, Suzuki M, Mitsuma T
PLoS One 2024;19(1):e0296450. Epub 2024 Jan 2 doi: 10.1371/journal.pone.0296450. PMID: 38165850Free PMC Article
Liddle's-like syndrome associated with nephrotic syndrome secondary to membranous nephropathy: the first case report.
Yamaguchi E, Yoshikawa K, Nakaya I, Kato K, Miyasato Y, Nakagawa T, Kakizoe Y, Mukoyama M, Soma J
BMC Nephrol 2018 May 23;19(1):122. doi: 10.1186/s12882-018-0916-3. PMID: 29792170Free PMC Article
A semi-physiologically based pharmacokinetic pharmacodynamic model for glycyrrhizin-induced pseudoaldosteronism and prediction of the dose limit causing hypokalemia in a virtual elderly population.
Xu R, Liu X, Yang J
PLoS One 2014;9(12):e114049. Epub 2014 Dec 2 doi: 10.1371/journal.pone.0114049. PMID: 25463381Free PMC Article
Genetic disorders of membrane transport. V. The epithelial sodium channel and its implication in human diseases.
Hummler E, Horisberger JD
Am J Physiol 1999 Mar;276(3):G567-71. doi: 10.1152/ajpgi.1999.276.3.G567. PMID: 10070030
Dysphoric and depressive symptoms in chronic schizophrenia.
Hirsch SR, Jolley AG, Barnes TR, Liddle PF, Curson DA, Patel A, York A, Bercu S, Patel M
Schizophr Res 1989 May-Jun;2(3):259-64. doi: 10.1016/0920-9964(89)90002-9. PMID: 2577273

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