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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

Promise of Physiological Profiling to Prevent Stroke in People of African Ancestry: Prototyping Ghana.
Sarfo FS, Ovbiagele B
Curr Neurol Neurosci Rep 2022 Nov;22(11):735-743. Epub 2022 Oct 1 doi: 10.1007/s11910-022-01239-x. PMID: 36181575
Risk Factors for Pseudoaldosteronism with Yokukansan Use: Analysis Using the Japanese Adverse Drug Report (JADER) Database.
Ishida T, Kawada K, Morisawa S, Jobu K, Morita Y, Miyamura M
Biol Pharm Bull 2020;43(10):1570-1576. doi: 10.1248/bpb.b20-00424. PMID: 32999167
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
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
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

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
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
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
The epithelial sodium channel: activation by membrane-bound serine proteases.
Rossier BC
Proc Am Thorac Soc 2004;1(1):4-9. doi: 10.1513/pats.2306007. PMID: 16113404
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

Therapy

Risk Factors for Pseudoaldosteronism with Yokukansan Use: Analysis Using the Japanese Adverse Drug Report (JADER) Database.
Ishida T, Kawada K, Morisawa S, Jobu K, Morita Y, Miyamura M
Biol Pharm Bull 2020;43(10):1570-1576. doi: 10.1248/bpb.b20-00424. PMID: 32999167
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
The genetics of hypertension.
Thibonnier M, Schork NJ
Curr Opin Genet Dev 1995 Jun;5(3):362-70. doi: 10.1016/0959-437x(95)80052-2. PMID: 7549432

Prognosis

A pitfall in diagnosing Cushing's disease: ectopic ACTH-producing pituitary adenoma in the sphenoid sinus.
Flitsch J, Schmid SM, Bernreuther C, Winterberg B, Ritter MM, Lehnert H, Burkhardt T
Pituitary 2015 Apr;18(2):279-82. doi: 10.1007/s11102-014-0591-8. PMID: 25129688
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
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
Neuropsychological correlates of syndromes in schizophrenia.
Norman RM, Malla AK, Morrison-Stewart SL, Helmes E, Williamson PC, Thomas J, Cortese L
Br J Psychiatry 1997 Feb;170:134-9. doi: 10.1192/bjp.170.2.134. PMID: 9093501
Cushing's syndrome due to adrenocortical tumor: 11-year review of 15 patients.
Scott HW Jr, Foster JH, Liddle G, Davidson ET
Ann Surg 1965 Sep;162(3):505-16. doi: 10.1097/00000658-196509000-00018. PMID: 5829723Free PMC Article

Clinical prediction guides

A pitfall in diagnosing Cushing's disease: ectopic ACTH-producing pituitary adenoma in the sphenoid sinus.
Flitsch J, Schmid SM, Bernreuther C, Winterberg B, Ritter MM, Lehnert H, Burkhardt T
Pituitary 2015 Apr;18(2):279-82. doi: 10.1007/s11102-014-0591-8. PMID: 25129688
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
Neuropsychological correlates of syndromes in schizophrenia.
Norman RM, Malla AK, Morrison-Stewart SL, Helmes E, Williamson PC, Thomas J, Cortese L
Br J Psychiatry 1997 Feb;170:134-9. doi: 10.1192/bjp.170.2.134. PMID: 9093501
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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