{"doi":"10.1053/j.ajkd.2022.06.012","title":"Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review","abstract":null,"journal":"American Journal of Kidney Diseases","year":2023,"id":594228,"datarank":0.31191623125197543,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"self_citation_contribution":0.31191623125197543,"citation_network_contribution":0.0,"self_endowment_contribution":0.31191623125197543,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":7,"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":1061410,"name":"Chunli Zhang","orcid":"0000-0003-4744-4090","position":1,"is_corresponding":false},{"id":143123,"name":"Yuanmeng Jin","orcid":null,"position":2,"is_corresponding":false},{"id":1248291,"name":"Jun Tong","orcid":null,"position":3,"is_corresponding":false},{"id":959288,"name":"Jian Liu","orcid":"0000-0001-5516-0157","position":4,"is_corresponding":false},{"id":1521054,"name":"Xu Hao","orcid":null,"position":5,"is_corresponding":false},{"id":458433,"name":"Qinjie Weng","orcid":"0000-0001-8026-0109","position":6,"is_corresponding":false},{"id":1232555,"name":"Shuwen Yu","orcid":"0009-0006-4226-6239","position":7,"is_corresponding":false},{"id":458942,"name":"Wen Du","orcid":"0000-0002-8138-774X","position":8,"is_corresponding":false},{"id":1521055,"name":"Yikai Cai","orcid":null,"position":9,"is_corresponding":false},{"id":1232917,"name":"Qimin Zheng","orcid":null,"position":10,"is_corresponding":false},{"id":108957,"name":"Li Yang","orcid":"0000-0002-2528-5087","position":11,"is_corresponding":false},{"id":242613,"name":"Hong Ren","orcid":"0000-0002-4557-0918","position":12,"is_corresponding":false},{"id":1232559,"name":"Xiaoxia Pan","orcid":"0000-0002-2963-7019","position":13,"is_corresponding":false},{"id":242610,"name":"Jingyuan Xie","orcid":"0000-0002-5508-0664","position":14,"is_corresponding":false},{"id":1211842,"name":"Zhengying Fang","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review","abstract":"Focal segmental glomerulosclerosis (FSGS) is a histological lesion with a variety of potential causes, including rare variants of podocyte-related genes. Recently, it has been found that variants in the TBC1D8B gene on the X chromosome can lead to early-onset focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome by affecting endocytosis and recycling of nephrin. Here, we report a 19-year-old Chinese patient with nephrotic syndrome and normal kidney function. He had a complete remission of nephrotic syndrome after full-dose prednisone and cyclosporine treatment. Unfortunately, a relapse of nephrotic syndrome occurred during prednisone tapering. Focal segmental glomerulosclerosis was proven by a kidney biopsy, and a hemizygous pathogenic variant located in the TBC (Tre-2-Bub2-Cdc16) domain of TBC1D8B was detected by whole-exome sequencing. By comparing our case with reports of other patients with TBC1D8B variants, we suggest possible genotype-phenotype correlations. To our knowledge, this is the first report identifying a pathogenetic variant in the TBC domain of TBC1D8B in an adult-onset focal segmental glomerulosclerosis patient with steroid-dependent NS. With this report, we broaden the clinical and genetic spectrum of X-linked genetic FSGS.","is_dataset_classified":null,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"35970429","pmcid":null,"openalex_id":"https://openalex.org/W4290828997","authors":[],"funders":[],"total_grants":0,"fwci":0.8623,"citation_percentile":0.69580347,"influential_citations":0,"citation_trend":[{"year":2023,"count":2},{"year":2024,"count":3},{"year":2025,"count":2}],"oa_status":"closed","license":"https://www.elsevier.com/legal/tdmrep-license","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S0272638622008502?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0272638622008502?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1053/j.ajkd.2022.06.012","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/35970429","host_type":"repository"}],"fields_of_study":["Renal Diseases and Glomerulopathies","Vasculitis and related conditions","Amyloidosis: Diagnosis, Treatment, Outcomes","Male","Humans","Nephrotic Syndrome","Glomerulosclerosis, Focal Segmental","Prednisone","Cyclosporine","Podocytes"],"mesh_terms":["Glomerulosclerosis, Focal Segmental","Humans","Male","Nephrotic Syndrome","Prednisone","Cyclosporine","Podocytes"],"keywords":["Focal segmental glomerulosclerosis","Nephrotic syndrome","Medicine","Podocyte","Minimal change disease","Prednisone","Nephrin","Renal biopsy","Pathology","Glomerulonephritis","Internal medicine","Kidney","Biopsy","Proteinuria","Mutation","Genetic disease","Case Report","Kidney Function","X-linked","Kidney Biopsy","Nephrotic Syndrome (Ns)","Whole-exome Sequencing (Wes)","Hemizygous","Focal And Segmental Glomerulosclerosis (Fsgs)","Tbc1d8b","Tbc Domain Protein Family"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-27T13:57:42.831007Z","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":[]}