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Liddle syndrome 2(LIDLS2)

MedGen UID:
1648476
•Concept ID:
C4748251
•
Disease or Syndrome
Synonym: Liddle Syndrome, SCNN1G-Related
 
Gene (location): SCNN1G (16p12.2)
 
Monarch Initiative: MONDO:0020854
OMIM®: 618114

Definition

Liddle syndrome is an autosomal dominant form of hypertension characterized by early onset of hypertension associated with hypokalemia, suppressed plasma renin activity, and suppressed secretion of the mineralocorticoid hormone aldosterone (summary by Hansson et al., 1995). For a general phenotypic description and 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 level
MedGen UID:
208996
•Concept ID:
C0857899
•
Finding
Abnormally reduced levels of aldosterone.
See: Feature record | Search on this feature
Decreased circulating renin level
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 diagnosis and treatment of hereditary renal tubular disease with hypokalemia and alkalosis.
Guo W, Ji P, Xie Y
J Nephrol 2023 Mar;36(2):575-591. Epub 2022 Aug 22 doi: 10.1007/s40620-022-01428-4. PMID: 35994232
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
Clinical and Molecular Perspectives of Monogenic Hypertension.
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free 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

Pathophysiologic approach in genetic hypokalemia: An update.
Blanchard A
Ann Endocrinol (Paris) 2023 Apr;84(2):298-307. Epub 2023 Jan 10 doi: 10.1016/j.ando.2022.11.005. PMID: 36639120
Genetic diagnosis and treatment of hereditary renal tubular disease with hypokalemia and alkalosis.
Guo W, Ji P, Xie Y
J Nephrol 2023 Mar;36(2):575-591. Epub 2022 Aug 22 doi: 10.1007/s40620-022-01428-4. PMID: 35994232
Diagnostic approach to low-renin hypertension.
Monticone S, Losano I, Tetti M, Buffolo F, Veglio F, Mulatero P
Clin Endocrinol (Oxf) 2018 Oct;89(4):385-396. Epub 2018 Jun 6 doi: 10.1111/cen.13741. PMID: 29758100
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

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
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
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

Monogenic forms of low-renin hypertension: clinical and molecular insights.
Khandelwal P, Deinum J
Pediatr Nephrol 2022 Jul;37(7):1495-1509. Epub 2021 Aug 20 doi: 10.1007/s00467-021-05246-x. PMID: 34414500
SARS-CoV-2 evolution during treatment of chronic infection.
Kemp SA, Collier DA, Datir RP, Ferreira IATM, Gayed S, Jahun A, Hosmillo M, Rees-Spear C, Mlcochova P, Lumb IU, Roberts DJ, Chandra A, Temperton N; CITIID-NIHR BioResource COVID-19 Collaboration; COVID-19 Genomics UK (COG-UK) Consortium, Sharrocks K, Blane E, Modis Y, Leigh KE, Briggs JAG, van Gils MJ, Smith KGC, Bradley JR, Smith C, Doffinger R, Ceron-Gutierrez L, Barcenas-Morales G, Pollock DD, Goldstein RA, Smielewska A, Skittrall JP, Gouliouris T, Goodfellow IG, Gkrania-Klotsas E, Illingworth CJR, McCoy LE, Gupta RK
Nature 2021 Apr;592(7853):277-282. Epub 2021 Feb 5 doi: 10.1038/s41586-021-03291-y. PMID: 33545711Free PMC Article
Clinical and Molecular Perspectives of Monogenic Hypertension.
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free 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

Clinical prediction guides

SARS-CoV-2 evolution during treatment of chronic infection.
Kemp SA, Collier DA, Datir RP, Ferreira IATM, Gayed S, Jahun A, Hosmillo M, Rees-Spear C, Mlcochova P, Lumb IU, Roberts DJ, Chandra A, Temperton N; CITIID-NIHR BioResource COVID-19 Collaboration; COVID-19 Genomics UK (COG-UK) Consortium, Sharrocks K, Blane E, Modis Y, Leigh KE, Briggs JAG, van Gils MJ, Smith KGC, Bradley JR, Smith C, Doffinger R, Ceron-Gutierrez L, Barcenas-Morales G, Pollock DD, Goldstein RA, Smielewska A, Skittrall JP, Gouliouris T, Goodfellow IG, Gkrania-Klotsas E, Illingworth CJR, McCoy LE, Gupta RK
Nature 2021 Apr;592(7853):277-282. Epub 2021 Feb 5 doi: 10.1038/s41586-021-03291-y. PMID: 33545711Free 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
CD36-dependent signaling mediates fatty acid-induced gut release of secretin and cholecystokinin.
Sundaresan S, Shahid R, Riehl TE, Chandra R, Nassir F, Stenson WF, Liddle RA, Abumrad NA
FASEB J 2013 Mar;27(3):1191-202. Epub 2012 Dec 11 doi: 10.1096/fj.12-217703. PMID: 23233532Free PMC Article
A naturally occurring human Nedd4-2 variant displays impaired ENaC regulation in Xenopus laevis oocytes.
Fouladkou F, Alikhani-Koopaei R, Vogt B, Flores SY, Malbert-Colas L, Lecomte MC, Loffing J, Frey FJ, Frey BM, Staub O
Am J Physiol Renal Physiol 2004 Sep;287(3):F550-61. Epub 2004 May 12 doi: 10.1152/ajprenal.00353.2003. PMID: 15140763
An extreme-sib-pair genome scan for genes regulating blood pressure.
Xu X, Rogus JJ, Terwedow HA, Yang J, Wang Z, Chen C, Niu T, Wang B, Xu H, Weiss S, Schork NJ, Fang Z
Am J Hum Genet 1999 Jun;64(6):1694-701. doi: 10.1086/302405. PMID: 10330357Free PMC Article

Recent systematic reviews

A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review.
Lu Y, Liu X, Sun L, Zhang D, Fan P, Yang K, Zhang L, Liu Y, Zhou X
Mol Med Rep 2024 Feb;29(2) Epub 2023 Dec 15 doi: 10.3892/mmr.2023.13142. PMID: 38099339Free PMC Article
Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome.
Yang KQ, Lu CX, Fan P, Zhang Y, Meng X, Dong XQ, Luo F, Liu YX, Zhang HM, Wu HY, Cai J, Zhang X, Zhou XL
Clin Exp Hypertens 2018;40(2):107-111. Epub 2017 Jul 18 doi: 10.1080/10641963.2017.1334799. PMID: 28718682

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