{"doi":"10.12659/ajcr.924527","title":"Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review","abstract":null,"journal":"American Journal of Case Reports","year":2020,"id":614713,"datarank":0.3958585994422889,"base_score":2.639057329615259,"endowment":2.639057329615259,"self_citation_contribution":0.3958585994422889,"citation_network_contribution":0.0,"self_endowment_contribution":0.3958585994422889,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":13,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":398289,"name":"David S. Geller","orcid":"0000-0002-4549-7124","position":1,"is_corresponding":false},{"id":1584100,"name":"Carol Nelson-Williams","orcid":null,"position":2,"is_corresponding":false},{"id":1584101,"name":"Richard P. Lifton","orcid":null,"position":3,"is_corresponding":false},{"id":1584102,"name":"Hassan Al-Malki","orcid":null,"position":4,"is_corresponding":false},{"id":1584103,"name":"Awais Nauman","orcid":null,"position":5,"is_corresponding":false},{"id":1584098,"name":"Khaled A. Elfert","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review","abstract":"BACKGROUND Bartter syndrome is a rare genetic disease characterized by hypokalemia, metabolic alkalosis, and hyperreninemic hyperaldosteronism. Five different subtypes have been described based on the genetic defect identified. Bartter syndrome type II is caused by homozygous or compound heterozygous loss-of-function mutations in the KCNJ1 gene encoding ROMK. This subtype is typically described as a severe antenatal form of the disease, often presenting with polyhydramnios before childbirth. CASE REPORT Here, we describe the case of a 26-year-old man who presented with generalized body weakness and hypokalemia and was ultimately diagnosed with Bartter syndrome type II based on his clinical features coupled with the identification of a homozygous missense mutation in KCNJ1. CONCLUSIONS To the best of our knowledge, this is the fifth case of late-onset Bartter syndrome type II. Interestingly, the mutation identified in our patient has been previously described in patients with antenatal Bartter's Syndrome. The late presentation in our patient suggests a surprising degree of phenotypic variability, even in patients carrying the identical disease-causing mutation.","is_dataset_classified":null,"base_score":2.639057329615259,"endowment":2.639057329615259,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"32997650","pmcid":"PMC7534490","openalex_id":"https://openalex.org/W3090172175","authors":[],"funders":[{"funder_name":"NCATS NIH HHS","grant_id":"UL1 TR001863","title":null}],"total_grants":1,"fwci":0.5964,"citation_percentile":0.64085855,"influential_citations":0,"citation_trend":[{"year":2021,"count":3},{"year":2022,"count":4},{"year":2023,"count":1},{"year":2024,"count":2},{"year":2025,"count":3}],"oa_status":"green","license":"cc-by-nc-nd","oa_locations":[{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7534490","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7534490","host_type":"repository"},{"url":"https://www.amjcaserep.com/download/index/idArt/924527","host_type":"publisher"},{"url":"https://doi.org/10.12659/ajcr.924527","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/32997650","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC7534490","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC7534490?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Ion Transport and Channel Regulation","Electrolyte and hormonal disorders","Neonatal Respiratory Health Research","Adult","Bartter Syndrome","Female","Homozygote","Humans","Hypokalemia","Male","Mutation, Missense","Potassium Channels, Inwardly Rectifying","Pregnancy"],"mesh_terms":["Adult","Bartter Syndrome","Female","Homozygote","Humans","Hypokalemia","Male","Pregnancy","Mutation, Missense","Potassium Channels, Inwardly Rectifying"],"keywords":["Bartter syndrome","Medicine","Hypokalemia","Missense mutation","Hyperaldosteronism","Compound heterozygosity","Bartter's syndrome","Metabolic alkalosis","Rare disease","Mutation","Pediatrics","Gene mutation","Internal medicine","Endocrinology","Disease","Genetics","Gene","Aldosterone","Biology"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"gen"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-02T15:35:29.772639Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}