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Blood Pressure Volume 31, 2022 - Issue 1
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Original Articles

Liddle syndrome misdiagnosed as primary aldosteronism is caused by inaccurate aldosterone-rennin detection while a novel SCNN1G mutation is discovered

Yaling Yanga Department of Endocrinology, Shanghai Public Health Clinical Center, Shanghai, ChinaORCID Iconhttps://orcid.org/0000-0003-4136-1323View further author information
ORCID Icon,
Chenwei Wua Department of Endocrinology, Shanghai Public Health Clinical Center, Shanghai, ChinaView further author information
,
Duoduo Qua Department of Endocrinology, Shanghai Public Health Clinical Center, Shanghai, ChinaView further author information
,
Xinyue Xua Department of Endocrinology, Shanghai Public Health Clinical Center, Shanghai, ChinaView further author information
,
Lili Chenb Department of Endocrinology, Huashan Hospital, Fudan University, Shanghai, ChinaView further author information
,
Quanya Sunb Department of Endocrinology, Huashan Hospital, Fudan University, Shanghai, ChinaView further author information
&
Xiaolong Zhaoa Department of Endocrinology, Shanghai Public Health Clinical Center, Shanghai, ChinaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-8734-6930View further author information
ORCID Icon show all
Pages 139-145 | Received 07 Feb 2022, Accepted 03 Jun 2022, Published online: 20 Jun 2022

References

  • Botero-Velez M, Curtis JJ, Warnock DG. Brief report: Liddle's syndrome revisited-a disorder of sodium reabsorption in the distal tubule. N Engl J Med. 1994;330(3):178–181.
  • Gardner D. Greenspan’s basic & clinical endocrinology. 9ed. New York City: Mcgraw-Hill Education; 2011.
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405–424.
  • Yang K-Q, Lu C-X, Xiao Y, et al. A novel frameshift mutation of epithelial sodium channel β-subunit leads to Liddle syndrome in an isolated case. Clin Endocrinol (Oxf). 2015;82(4):611–614.
  • Fan P, Lu CX, Zhang D, et al. Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B. Endocr Connect. 2018;7(12):1528–1534.
  • Weiyan Z, et al. Analysis on the performance of aldosterone testing and the results of EQA in China. Chin J Lab Med. 2020;43:267–273.
  • Fengfan Z, et al. Comparison of the consistency of different methods in detecting serum aldosterone concentration. Chin J Endocrinol Metab. 2019;35:5.
  • Wenbo L, Weiyan Z, Chuanbao Z. Laboratory measurement of aldosterone and its standardization. Chin J Clin Lab Sci. 2019;35:861–864.
  • Ray JA, Kushnir MM, Palmer J, et al. Enhancement of specificity of aldosterone measurement in human serum and plasma using 2D-LC–MS/MS and comparison with commercial immunoassays. J Chromatogr B. 2014;970:102–107.
  • Yin Y, Ma C, Yu S, et al. Comparison of three different chemiluminescence assays and a rapid liquid chromatography tandem mass spectrometry method for measuring serum aldosterone. Clin Chem Lab Med. 2019;58(1):95–102.
  • Hanukoglu I, Hanukoglu A. Epithelial sodium channel (ENaC) family: phylogeny, structure-function, tissue distribution, and associated inherited diseases. Gene. 2016;579(2):95–132.
  • Salih M, Gautschi I, van Bemmelen MX, et al. A missense mutation in the extracellular domain of αENaC causes liddle syndrome. J Am Soc Nephrol. 2017;28(11):3291–3299.
  • Levanovich PE, Diaczok A, Rossi NF. Clinical and molecular perspectives of monogenic hypertension. Curr Hypertens Rev. 2020;16(2):91–107.
  • Yamashita Y, Koga M, Takeda Y, et al. Two sporadic cases of Liddle’s syndrome caused by de novo ENaC mutations. Am J Kidney Dis. 2001;37(3):499–504.
  • Hansson JH, Nelson-Williams C, Suzuki H, et al. Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet. 1995;11(1):76–82.
  • Wang L-P, Yang K-Q, Jiang X-J, et al. Prevalence of Liddle syndrome among young hypertension patients of undetermined cause in a Chinese population. J Clin Hypertens. 2015;17(11):902–907.
  • Wang Y, Zheng Y, Chen J, et al. A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. Clin Endocrinol. 2007;67(5):801–804.
  • Liu K, Qin F, Sun X, et al. Analysis of the genes involved in mendelian forms of low-renin hypertension in Chinese early-onset hypertensive patients. J Hypertens. 2018;36(3):502–509.
  • Tapolyai M, Uysal A, Dossabhoy NR, et al. High prevalence of Liddle syndrome phenotype among hypertensive US veterans in Northwest Louisiana. J Clin Hypertens. 2010;12(11):856–860.
  • Padmanabhan S, Caulfield M, Dominiczak AF. Genetic and molecular aspects of hypertension. Circ Res. 2015;116(6):937–959.

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