Multiple co-occurring genetic variants in an elderly patient with Liddle’s-like syndrome: a case report and literature review
{"Abstract":[0],"Background":[1],"Liddle":[2],"syndrome":[3,259,285],"(LS)":[4],"is":[5],"a":[6,20,61,115,214,275],"rare":[7],"autosomal":[8],"dominant":[9],"condition":[10],"classically":[11],"defined":[12],"by":[13,26,103],"early-onset":[14],"hypertension,":[15],"hypokalemia,":[16],"metabolic":[17,149,270],"alkalosis,":[18,150,271],"and":[19,69,81,106,130,139,151,187,221,228,230,242,274,302],"suppressed":[21,152],"renin-aldosterone":[22,153],"profile,":[23],"primarily":[24],"driven":[25],"gain-of-function":[27],"mutations":[28],"in":[29,51,289,296],"the":[30,39,52,265,290],"SCNN1A":[31],",":[32,34],"SCNN1B":[33],"or":[35],"SCNN1G":[36,182],"genes":[37],"encoding":[38],"epithelial":[40],"sodium":[41],"channel":[42],"(ENaC).":[43],"Nevertheless,":[44],"genetically":[45],"investigated":[46],"cases":[47,121],"exhibiting":[48],"Liddle’s-like":[49],"phenotypes":[50],"elderly":[53,237],"population":[54],"remain":[55],"exceptionally":[56],"rare.":[57],"Methods":[58],"We":[59,234],"report":[60,235],"61-year-old":[62],"male":[63],"admitted":[64],"with":[65,99,200,239],"recurrent":[66],"limb":[67],"weakness":[68],"resistant":[70,243],"hypertension.":[71,244],"A":[72,197],"comprehensive":[73],"clinical":[74],"workup,":[75],"including":[76],"biochemical":[77,267],"profiles,":[78],"RAAS":[79],"evaluation,":[80],"24-h":[82,155],"ABPM,":[83],"was":[84,97,122,260],"conducted":[85],"to":[86,163,278,299],"exclude":[87],"common":[88,248],"secondary":[89,249],"causes.":[90],"Following":[91],"informed":[92],"consent,":[93],"whole-exome":[94],"sequencing":[95,105],"(WES)":[96],"performed,":[98],"candidate":[100],"variants":[101,171],"validated":[102],"Sanger":[104],"assessed":[107],"per":[108],"ACMG/AMP":[109],"guidelines.":[110],"To":[111],"guide":[112],"therapeutic":[113],"management,":[114],"narrative":[116],"literature":[117,272],"review":[118],"of":[119,128,172,218,293],"similar":[120],"also":[123],"performed":[124],"searching":[125],"PubMed,":[126],"Web":[127],"Science,":[129],"CNKI":[131],"using":[132],"keywords":[133],"like":[134],"\\"Liddle":[135],"syndrome,\\"":[136],"\\"elderly,\\"":[137],"\\"hypertension,\\"":[138],"\\"hypokalemia.\\".":[140],"Results":[141],"Admission":[142],"tests":[143],"showed":[144],"hypokalemia":[145,241],"(2.94":[146],"mmol/L),":[147],"compensated":[148,269],"levels.":[154],"ABPM":[156],"indicated":[157],"severe":[158],"blood":[159,223],"pressure":[160,224],"fluctuations":[161],"up":[162],"185/120":[164],"mmHg.":[165,232],"Genetic":[166],"testing":[167],"revealed":[168],"three":[169],"heterozygous":[170],"uncertain":[173],"significance":[174],"(VUS)—":[175],"CYP3A5":[176],"(c.1253":[177],"+":[178],"83C":[179],">":[180,184,190],"T),":[181],"(c.1727A":[183],"G,":[185],"p.Lys576Arg),":[186],"WNK1":[188],"(c.5636A":[189],"T,":[191],"p.Asp1879Val)—without":[192],"any":[193],"known":[194],"pathogenic":[195],"variants.":[196],"diagnostic":[198],"trial":[199],"triamterene":[201],"(50":[202],"mg":[203],"twice":[204],"daily)":[205],"restored":[206],"normal":[207],"potassium":[208],"levels":[209],"(>":[210],"3.5":[211],"mmol/L).":[212],"After":[213,245],"30-day":[215],"combination":[216],"therapy":[217],"controlled-release":[219],"nifedipine":[220],"irbesartan,":[222],"stabilized":[225],"between":[226],"110":[227],"133":[229],"69-85":[231],"Conclusion":[233],"an":[236],"patient":[238],"chronic":[240],"ruling":[246],"out":[247],"causes":[250],"(for":[251],"example,":[252],"primary":[253],"aldosteronism,":[254],"Cushing's":[255],"syndrome,":[256],"pheochromocytoma),":[257],"Liddle's-like":[258,284],"clinically":[261],"diagnosed":[262],"based":[263],"on":[264],"low-renin/low-aldosterone":[266],"phenotype,":[268],"review,":[273],"selective":[276],"response":[277],"triamterene.":[279],"This":[280],"case":[281],"suggests":[282],"that":[283],"must":[286],"be":[287],"considered":[288],"differential":[291],"diagnosis":[292],"hypokalemic":[294],"hypertension":[295],"older":[297],"adults":[298],"ensure":[300],"early":[301],"targeted":[303],"therapy.":[304]}
Authors
- Li Guo (ORCID: https://orcid.org/0000-0002-3996-7521)
- Xinping Wang (ORCID: https://orcid.org/0000-0003-4540-5522)
- Yanhai Zhang (ORCID: https://orcid.org/0000-0001-6187-1676)
- Juan Wang (ORCID: https://orcid.org/0000-0003-1019-7508)
- Hua Yuan (ORCID: https://orcid.org/0000-0002-3875-9421)
- Yangzhi Zheng
- Yunlong Liang
- Linan Duan
- Jing Zhang
Institutions
- Xijing Hospital (CN)
- Air Force Medical University (CN)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2026-08-25
- DOI
- https://doi.org/10.1186/s13256-026-06473-2
- Primary Topic
- Ion Transport and Channel Regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00