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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
Inherited forms of mineralocorticoid hypertension.
Hassan-Smith Z, Stewart PM
Curr Opin Endocrinol Diabetes Obes 2011 Jun;18(3):177-85. doi: 10.1097/MED.0b013e3283469444. PMID: 21494136

Diagnosis

Liddle Syndrome: Review of the Literature and Description of a New Case.
Tetti M, Monticone S, Burrello J, Matarazzo P, Veglio F, Pasini B, Jeunemaitre X, Mulatero P
Int J Mol Sci 2018 Mar 11;19(3) doi: 10.3390/ijms19030812. PMID: 29534496Free 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
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
Investigating mineralocorticoid hypertension.
Nussberger J
J Hypertens Suppl 2003 May;21(2):S25-30. doi: 10.1097/00004872-200305002-00005. PMID: 12929904

Therapy

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
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
Investigating mineralocorticoid hypertension.
Nussberger J
J Hypertens Suppl 2003 May;21(2):S25-30. doi: 10.1097/00004872-200305002-00005. PMID: 12929904

Prognosis

Bilateral Adrenal Hyperplasia as a Possible Mechanism for Hyperandrogenism in Women With Polycystic Ovary Syndrome.
Gourgari E, Lodish M, Keil M, Sinaii N, Turkbey E, Lyssikatos C, Nesterova M, de la Luz Sierra M, Xekouki P, Khurana D, Ten S, Dobs A, Stratakis CA
J Clin Endocrinol Metab 2016 Sep;101(9):3353-60. Epub 2016 Jun 23 doi: 10.1210/jc.2015-4019. PMID: 27336356Free 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
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
Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity?
Gunther DF, Bourdeau I, Matyakhina L, Cassarino D, Kleiner DE, Griffin K, Courkoutsakis N, Abu-Asab M, Tsokos M, Keil M, Carney JA, Stratakis CA
J Clin Endocrinol Metab 2004 Jul;89(7):3173-82. doi: 10.1210/jc.2003-032247. PMID: 15240590
Nocturnal high-dose dexamethasone suppression test in the aetiological diagnosis of Cushing's syndrome.
Bruno OD, Rossi MA, Contreras LN, Gómez RM, Galparsoro G, Cazado E, Kral M, Leber B, Arias D
Acta Endocrinol (Copenh) 1985 Jun;109(2):158-62. doi: 10.1530/acta.0.1090158. PMID: 2990131

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
Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach.
Firsov D, Schild L, Gautschi I, Mérillat AM, Schneeberger E, Rossier BC
Proc Natl Acad Sci U S A 1996 Dec 24;93(26):15370-5. doi: 10.1073/pnas.93.26.15370. PMID: 8986818Free PMC Article
Nocturnal high-dose dexamethasone suppression test in the aetiological diagnosis of Cushing's syndrome.
Bruno OD, Rossi MA, Contreras LN, Gómez RM, Galparsoro G, Cazado E, Kral M, Leber B, Arias D
Acta Endocrinol (Copenh) 1985 Jun;109(2):158-62. doi: 10.1530/acta.0.1090158. PMID: 2990131
Hypertension, hypokalemia and hypoaldosteronism with suppressed renin: a clinical study of a patient with Liddle's syndrome.
Sakamoto N, Uda M, Kojima S, Tsuchiya M, Ito K, Ogino K, Ikeda M, Watabe R
Endocrinol Jpn 1981 Jun;28(3):357-62. doi: 10.1507/endocrj1954.28.357. PMID: 6273144

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