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Liddle syndrome(LIDLS; LIDLS1)

MedGen UID:
67439
Concept ID:
C0221043
Disease or Syndrome
Synonym: Liddle's syndrome
SNOMED CT: Pseudoprimary hyperaldosteronism (707747007); Liddle syndrome (707747007); Pseudoaldosteronism (707747007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0008323
OMIM®: 177200; 600760
OMIM® Phenotypic series: PS177200
Orphanet: ORPHA526

Definition

Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal.

In addition to hypertension, affected individuals can have low levels of potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include muscle weakness or pain, fatigue, constipation, or heart palpitations. The shortage of potassium can also raise the pH of the blood, a condition known as metabolic alkalosis. [from MedlinePlus Genetics]

Clinical features

From HPO
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hypokalemic alkalosis
MedGen UID:
43208
Concept ID:
C0085570
Disease or Syndrome
Decreased circulating aldosterone level
MedGen UID:
208996
Concept ID:
C0857899
Finding
Abnormally reduced levels of aldosterone.
Decreased circulating renin level
MedGen UID:
337182
Concept ID:
C1845206
Finding
An decreased level of renin in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLiddle syndrome
Follow this link to review classifications for Liddle syndrome in Orphanet.

Professional guidelines

PubMed

Charoensri S, Auchus RJ
Eur J Endocrinol 2023 Nov 8;189(5):R11-R22. doi: 10.1093/ejendo/lvad140. PMID: 37847213
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
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Recent clinical studies

Etiology

Singh V, Van Why SK
Med Clin North Am 2024 Jan;108(1):157-172. Epub 2023 Jul 27 doi: 10.1016/j.mcna.2023.06.005. PMID: 37951648
Charoensri S, Auchus RJ
Eur J Endocrinol 2023 Nov 8;189(5):R11-R22. doi: 10.1093/ejendo/lvad140. PMID: 37847213
Pappachan JM, Buch HN
Adv Exp Med Biol 2017;956:215-237. doi: 10.1007/5584_2016_26. PMID: 27864805
Valsan D, Burhan U, Teehan G
Adv Exp Med Biol 2017;956:181-189. doi: 10.1007/5584_2016_38. PMID: 27864800
Aziz DA, Memon F, Rahman A, Ali M
J Ayub Med Coll Abbottabad 2016 Oct-Dec;28(4):809-811. PMID: 28586600

Diagnosis

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
Mareš Š, Filipovský J
Vnitr Lek 2022 Winter;68(E-8):8-11. doi: 10.36290/vnl.2022.115. PMID: 36575060
Athimulam S, Lazik N, Bancos I
Endocrinol Metab Clin North Am 2019 Dec;48(4):701-715. Epub 2019 Sep 25 doi: 10.1016/j.ecl.2019.08.003. PMID: 31655771
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
Valsan D, Burhan U, Teehan G
Adv Exp Med Biol 2017;956:181-189. doi: 10.1007/5584_2016_38. PMID: 27864800

Therapy

Athimulam S, Lazik N, Bancos I
Endocrinol Metab Clin North Am 2019 Dec;48(4):701-715. Epub 2019 Sep 25 doi: 10.1016/j.ecl.2019.08.003. PMID: 31655771
Mumford E, Unwin RJ, Walsh SB
Nephrol Dial Transplant 2019 Jan 1;34(1):38-39. doi: 10.1093/ndt/gfy199. PMID: 29982819
Valsan D, Burhan U, Teehan G
Adv Exp Med Biol 2017;956:181-189. doi: 10.1007/5584_2016_38. PMID: 27864800
Aziz DA, Memon F, Rahman A, Ali M
J Ayub Med Coll Abbottabad 2016 Oct-Dec;28(4):809-811. PMID: 28586600
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Prognosis

Chen M, Lv X, Li J, Guo M, Ma S
Scand J Clin Lab Invest 2022 Nov-Dec;82(7-8):576-580. Epub 2022 Nov 6 doi: 10.1080/00365513.2022.2140454. PMID: 36336351
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
Malphrus E, Couch K, Chao JW
Adv Skin Wound Care 2019 Nov;32(11):1-2. doi: 10.1097/01.ASW.0000582616.30031.19. PMID: 31625969
Pappachan JM, Buch HN
Adv Exp Med Biol 2017;956:215-237. doi: 10.1007/5584_2016_26. PMID: 27864805
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

Clinical prediction guides

Chen M, Lv X, Li J, Guo M, Ma S
Scand J Clin Lab Invest 2022 Nov-Dec;82(7-8):576-580. Epub 2022 Nov 6 doi: 10.1080/00365513.2022.2140454. PMID: 36336351
Rayner BL, Spence JD, Bryer A, Mpe MT
S Afr Med J 2019 Aug 28;109(9):632-634. doi: 10.7196/SAMJ.2019.v109i9.14158. PMID: 31635585
Pappachan JM, Buch HN
Adv Exp Med Biol 2017;956:215-237. doi: 10.1007/5584_2016_26. PMID: 27864805
Bubien JK
J Biol Chem 2010 Jul 30;285(31):23527-31. Epub 2010 May 11 doi: 10.1074/jbc.R109.025049. PMID: 20460373Free PMC Article
Barbry P, Hofman P
Am J Physiol 1997 Sep;273(3 Pt 1):G571-85. doi: 10.1152/ajpgi.1997.273.3.G571. PMID: 9316461

Recent systematic reviews

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
Fan P, Pan XC, Zhang D, Yang KQ, Zhang Y, Tian T, Luo F, Ma WJ, Liu YX, Wang LP, Zhang HM, Song L, Cai J, Zhou XL
Am J Hypertens 2020 Jul 18;33(7):670-675. doi: 10.1093/ajh/hpaa037. PMID: 32161960Free PMC Article
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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