Glomerular diseases最新文献

{"title":"CureGN Pathology Classification and Core Scoring Criteria, Reproducibility, and Clinicopathologic Correlations","authors":"Matthew B Palmer, Virginie Royal, J. Charles Jennette, Abigail R. Smith, Qian Liu, Josephine M. Ambruzs, Nicole K. Andeen, Vivette D. D’Agati, Agnes B. Fogo, Joseph Gaut, Rasheed A. Gbadegesin, Larry A. Greenbaum, Jean Hou, Margaret E Helmuth, Richard A. Lafayette, Helen Liapis, Bruce Robinson, Michael B. Stokes, Katherine Twombley, Hong Yin, Cynthia C. Nast","doi":"10.1159/000534755","DOIUrl":"https://doi.org/10.1159/000534755","url":null,"abstract":"Introduction: CureGN is an observational cohort study of patients with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), membranous nephropathy (MN), or IgA nephropathy (IgAN). We developed a conventional, consensus-based scoring system to document pathologic features for application across multiple pathologists and herein describe the protocol, reproducibility and correlation with clinical parameters at biopsy. Methods: Definitions were established for glomerular, tubular, interstitial and vascular lesions evaluated semi-quantitatively using digitized light microscopy slides and electron micrographs, and reported immunofluorescence. Cases with curated pathology materials as of April 2019 were scored by a randomly assigned pathologist, with at least 10% of cases scored by a second pathologist. Scoring reproducibility was assessed using Gwet’s AC1 statistic and correlations with clinical variables were performed. Results: Of 800 scored biopsies (143 MCD, 185 FSGS, 206 MN, 266 IgA), 94 were scored twice (11.8%). Of 60 pathology features, 46 (76.7%) demonstrated excellent (AC1>0.8), and 12 (20.0%) had good (AC1 0.6-0.8) reproducibility. Mesangial hypercellularity scored as absent, focal or diffuse had moderate reproducibility (AC1=0.58), but good reproducibility (ACI=0.71) when scored as absent or focal vs diffuse. The percent glomeruli scored as no lesions had fair reproducibility (AC1=0.34). Strongest correlations between pathologic features and clinical characteristics at biopsy included interstitial inflammation, interstitial fibrosis and tubular atrophy with eGFR, foot process effacement with UPCR, and active crescents with hematuria. Conclusions: Most scored pathology features showed excellent reproducibility, demonstrating consistency for these features across multiple pathologists. Correlations between certain pathologic features and expected clinical characteristics show the value of this approach for future studies on clinicopathologic correlations and biomarker discovery.","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"55 12","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136377123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical profile and renal survival of anti-glomerular basement membrane disease patients– A retrospective case-series from Northern India","authors":"Asheesh Kumar, Samriti Gupta, Kush Dev Singh Jarial, Sukhwinder Sangha, Ashish Chauhan, Vikas Sharma, Rajeev Sandal, Dheeraj Sharma","doi":"10.1159/000534498","DOIUrl":"https://doi.org/10.1159/000534498","url":null,"abstract":"Abstract: Introduction: Anti-glomerular basement membrane (anti-GBM) disease is a rare organ-specific autoimmune disease. The overall and renal outcomes of patients have mostly been reported in small-sized cohorts. We aimed to study the clinical profile, overall and renal survival of anti-glomerular basement membrane disease patients at our center. Methods: We conducted a retrospective analysis of the data regarding the clinical profile and renal survival of patients diagnosed with anti-GBM disease from October 2019 and March 2022, having a minimum follow-up of 12 months. Results: There were 15 patients in the study, with the mean age of presentation being 51.6±13.7 years. The median duration of symptoms onset to nephrologist opinion was 15 (10-23) days. The extrarenal manifestations were seen in the respiratory, otorhinolaryngological, and neurological systems. The mean serum anti-GBM titers were 154.5 (14.9-263.5) U/ml. Serum anti-GBM titers were present in 13/15(86.6%) patients, and 12/13 (92.3%) patients had above the reference range. ANCA levels were assessed in 12/15 (80%) patients, and 9/12 (75%) had higher levels. Renal biopsy was available in 14 patients with more than 50% crescents. Along with crescents, necrotizing lesions, rupture of the Bowman’s capsule, and granulomatous lesions were also seen. Among the initial therapy, steroid pulse was given in 13 (86.6%) patients, whereas membrane plasmapheresis was given in 8 (53.3%) patients. Inj. Cyclophosphamide and Inj. Rituximab were given in 8 (53.3%) and 4 (26.6%) patients, respectively. No difference was seen in clinical characteristics, renal biopsy features, treatment received, and outcomes with ANCA positivity except for age, where patients who were ANCA positive were older compared to patients who were ANCA negative. One-year renal and patient survival was seen in 4 (26.6%) and 6 (40%) patients, respectively. Conclusion: Most patients of anti-GBM disease have active sediments, raised creatinine, and non-specific symptomatology. There is poor renal and patient outcome as most patients present with advanced renal failure.","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135993767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The International Society of Glomerular Disease: Building the Future of Glomerular Medicine.","authors":"Laurel J Damashek, Sharon G Adler, Joshua M Tarnoff, Tobias B Huber","doi":"10.1159/000534536","DOIUrl":"https://doi.org/10.1159/000534536","url":null,"abstract":"","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"3 1","pages":"230-232"},"PeriodicalIF":0.0,"publicationDate":"2023-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Kidney Biopsy Findings and Clinical Outcomes of US Veterans with Inflammatory Bowel Disease.","authors":"Prasanth Ravipati,&nbsp;Scott Reule,&nbsp;Alyssa Bren,&nbsp;Lihong Bu,&nbsp;Byron P Vaughn,&nbsp;Patrick H Nachman","doi":"10.1159/000534062","DOIUrl":"https://doi.org/10.1159/000534062","url":null,"abstract":"<p><strong>Introduction: </strong>Patients with inflammatory bowel disease (IBD; ulcerative colitis [UC] and Crohn's disease [CD]) may have unique patterns of kidney injury related to their underlying or coexisting disease or to medications. We present the kidney biopsy findings and clinical outcomes of veterans with UC or CD from the US Department of Veteran's Affairs (VA) health system.</p><p><strong>Methods: </strong>Histopathologic and clinical data were extracted by retrospective review of the VA electronic health record of patients with IBD and a kidney biopsy between 2000 and 2018. Incident end-stage kidney disease (ESKD) was defined as requirement of kidney replacement therapy. Statistical analyses were performed using SAS.</p><p><strong>Results: </strong>A total of 140 patients (UC: 91 and CD: 49) underwent kidney biopsy. The three most common diagnoses were IgA nephropathy (17.1%), diabetic nephropathy (14.3%), and acute interstitial nephritis (9.3%). Significant interstitial fibrosis, tubular atrophy, and arteriosclerosis were present in 45% of biopsies. Twenty-six percent of patients with UC and 20% of those with CD progressed to ESKD, with a mean time from kidney biopsy of 3.1 and 1.9 years, respectively. Forty-five percent of patients with UC and 34% of those with CD died, with a mean time from kidney biopsy of 4.3 and 4.6 years, respectively.</p><p><strong>Conclusion: </strong>Among US veterans with IBD who underwent a kidney biopsy, IgA nephropathy, diabetic nephropathy, and interstitial nephritis were among the most common findings. Additionally, features of advanced kidney disease with rapid clinical progression to ESKD or death were observed. These findings suggest a delay and possibly a low rate of diagnosis.</p>","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"3 1","pages":"233-240"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616669/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationships among Non-Neoplastic Histopathological Features, Kidney Function, Proteinuria, and Other Clinical Factors in Patients Undergoing Nephrectomy.","authors":"Laura Aponte Becerra, Juan D Salcedo Betancourt, Tali Elfassy, Oleksii Iakymenko, David B Thomas, Farid Isaac, Alessia Fornoni, Yiqin Zuo, Laura Barisoni, Gabriel Contreras, Jair Munoz Mendoza","doi":"10.1159/000534339","DOIUrl":"10.1159/000534339","url":null,"abstract":"<p><strong>Introduction: </strong>The non-neoplastic kidney parenchyma from nephrectomies is often overlooked in routine examinations. We aimed to evaluate the associations between global glomerulosclerosis (GS), interstitial fibrosis (IF), or arteriosclerosis (AS) and estimated glomerular filtration rate (eGFR), dipstick proteinuria, and other clinical factors.</p><p><strong>Methods: </strong>We performed a cross-sectional analysis of 781 patients with nephrectomy. We used regression models with and without interaction factors. The tested exposures were GS, IF, or AS, and the outcome measures were GFR and dipstick proteinuria.</p><p><strong>Results: </strong>In multivariable analyses, increasing degrees of GS, IF, or AS were significantly associated with lower eGFR and proteinuria (<i>p</i> < 0.05 for each). Obesity and hypertension (HTN) modified the association between eGFR and degrees of GS, whereas proteinuria and cardiovascular disease (CVD) modified the association between eGFR and degrees of AS (<i>p</i> for interaction <0.05). Compared with GS <10%, GS >50% was associated with lower eGFR in patients with (-45 mL/min/1.73 m²) than without (-19 mL/min/1.73 m²) obesity, and GS >50% was associated with lower eGFR in patients with (-31 mL/min/1.73 m²) than without (-16 mL/min/1.73 m²) HTN. Compared with AS <26%, AS >50% was associated with lower eGFR in patients with (-11 mL/min/1.73 m²) than without (-6 mL/min/1.73 m²) proteinuria, and AS >50% was associated with lower eGFR in patients with (-23 mL/min/1.73 m²) than without (-7 mL/min/1.73 m²) CVD.</p><p><strong>Conclusion: </strong>Greater degrees of each GS, IF, and AS are independently associated with proteinuria and lower eGFR. Obesity, HTN, proteinuria, and CVD modify the relationship between eGFR and specific histopathological features of nephrosclerosis.</p>","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"3 1","pages":"220-229"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616670/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Kidney Biopsy Corner: Amyloidosis.","authors":"Laura E Biederman, Alana D Dasgupta, Darren E Dreyfus, Tibor Nadasdy, Anjali A Satoskar, Sergey V Brodsky","doi":"10.1159/000533195","DOIUrl":"10.1159/000533195","url":null,"abstract":"<p><p>Amyloidosis is an infiltrative disease caused by misfolded proteins depositing in tissues. Amyloid infiltrates the kidney in several patterns. There are, as currently described by the International Society of Amyloidosis, 14 types of amyloid that can involve the kidney, and these types may have different locations or clinical settings. Herein we report a case of AA amyloidosis occurring in a 24-year-old male with a history of intravenous drug abuse and provide a comprehensive review of different types of amyloids involving the kidney.</p>","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"3 1","pages":"165-177"},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71415792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of the Needs of Nephrology Divisions to Implement Return of Clinically Significant Research Genetic Results: A Survey of Nephrotic Syndrome Study Network (NEPTUNE) Investigators.","authors":"Jennifer E Fishbein, Loryn Wilson Dass, Chrysta Lienczewski, Matthias Kretzler, Rasheed A Gbadegesin, J Scott Roberts, Matthew G Sampson, Wendy R Uhlmann","doi":"10.1159/000533501","DOIUrl":"10.1159/000533501","url":null,"abstract":"<p><strong>Introduction: </strong>There is an increasing need to return genetic testing results to patients with kidney disease who were first genotyped on a research basis. Operationalizing this process in nephrology clinics is challenged by a limited number of genetic providers with whom to partner and a general lack of support services for all clinicians.</p><p><strong>Methods: </strong>We administered a survey in March 2022 to assess the current ability and ongoing needs of nephrology divisions to return clinically significant research genetic results to patients and to implement clinical genetic testing. This survey was distributed to institutions within the Nephrotic Syndrome Study Network (NEPTUNE) as part of the planning process for return of research genetic results to participants with pathogenic variants in Mendelian nephrotic syndrome genes.</p><p><strong>Results: </strong>Twenty-seven of 28 sites (96%) completed the survey. 59% (<i>n</i> = 16) of sites said they could handle return of research genetic results independently, with the rest expressing hesitation about the volume and complexity of patients and the limited resources and access to genetics services. 81% (<i>n</i> = 22) of these institutions did have a genetics clinic and 26% (<i>n</i> = 7) have a nephrology genetics clinic. However, 70% (<i>n</i> = 10) of these clinics have a waiting time over 1 month. 89% of divisions (<i>n</i> = 24) were conducting genetic testing and 96% of those (<i>n</i> = 23) used a kidney multi-gene panel. In 46% of divisions (<i>n</i> = 11), nephrologists were handling logistics of obtaining genetic testing samples themselves.</p><p><strong>Conclusion: </strong>We identified specific areas of support needed for return of clinically significant genetic results from research studies. While the surveyed nephrologists were conducting genetic testing, there were limitations in the support services available. This survey will help guide other research studies that wish to return genetic results to participants and also highlight the need for increasing support to effectively operationalize genetic testing in nephrology clinics.</p>","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"3 1","pages":"178-188"},"PeriodicalIF":0.0,"publicationDate":"2023-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71415787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterization of Membranous Nephropathy with Microspherular Deposits.","authors":"Kevin Yi Mi Ren, Jean Hou","doi":"10.1159/000529700","DOIUrl":"10.1159/000529700","url":null,"abstract":"<p><strong>Introduction: </strong>Membranous nephropathy (MN) is a common cause of adult nephrotic syndrome in the USA. The typical ultrastructural finding is of global uniformly dense subepithelial electron-dense immune complex deposits along glomerular basement membranes. However, early reports described deposits with a unique microspherular substructure. There was variability in what was identified as microspherular, sometimes overlapping with other entities such as podocyte infolding glomerulopathy. Currently, the nature, composition, and clinical significance of these microspherular deposits (MSDs) remain unknown.</p><p><strong>Method: </strong>We report the clinicopathologic features of a series of MN cases with MSD, with detailed ultrastructural characterization as well as PLA2R and THSD7A immunohistochemical and IgG subclass-staining characteristics. The proportion of MSD to overall deposits is segregated into two groups: global MSD with >50% MSD (<i>n</i> = 14) and segmental MSD with <50% (<i>n</i> = 5).</p><p><strong>Results: </strong>The size and appearance of the microspherules were nearly identical in global and segmental MSD groups (mean diameter of 77.9 nm and 77.2 nm, respectively), with subepithelial (<i>n</i> = 19) or intramembranous (<i>n</i> = 12) distributions in all cases. Mesangial MSDs (<i>n</i> = 5) were only found in the global MSD group. The majority of biopsies (86% of global MSD and 100% of segmental MSD) were Ehrenreich-Churg stage 2 or above; early stage 1 was only observed in the global MSD group. All but 3 cases were PLA2R/THSD7A double negative; 1 THSD7A positive in global MSD and 2 PLA2R positive in segmental MSD. IgG1 was the dominant subclass in the global MSD group, and IgG4 was dominant in the segmental MSD group, including the 2 PLA2R-positive cases.</p><p><strong>Conclusion: </strong>The findings suggest that MSDs are more commonly associated with secondary MN. This case series is the largest to date, and the findings may yield etiologic and prognostic information on this rare but unique subset of MN and provide a well-characterized cohort of cases for future studies.</p>","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"3 1","pages":"197-210"},"PeriodicalIF":0.0,"publicationDate":"2023-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601910/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71415788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Review of the Role of Rituximab in the Management of Adult Minimal Change Disease and Immune-Mediated Focal and Segmental Glomerulosclerosis.","authors":"Ahsan Aslam, Abbal Koirala","doi":"10.1159/000533695","DOIUrl":"10.1159/000533695","url":null,"abstract":"<p><strong>Background: </strong>Minimal change disease and primary FSGS are podocytopathies but are also immune-mediated diseases. Rituximab acts via multiple mechanisms by tilting the balance between autoreactive B and T cells in favor of regulatory B and T cells. The consequences are decreased production of cytokines, chemokines, and permeability factors by these cells. In the past decade, we have seen the discovery of autoantibodies mediating nephrotic syndrome (anti-annexin A2 antibody, anti-UCHL1 antibody, and anti-nephrin antibody), and rituximab decreases their production. Rituximab also binds to podocyte SMPDL3b and has direct podocyte actions.</p><p><strong>Summary: </strong>Rituximab's role in managing these primary podocytopathies has been discussed in this brief review. Rituximab has been used extensively in children and adults with frequently relapsing and steroid-dependent nephrotic syndrome. However, rituximab is not very promising in adult steroid-resistant nephrotic syndrome. Although ofatumumab would cause prolonged B-cell depletion and is fully humanized, it is unclear if it is superior to rituximab in preventing relapse of nephrotic syndrome.</p><p><strong>Key messages: </strong>Rituximab therapy can induce prolonged remission in adults with frequently relapsing and steroid-dependent nephrotic syndrome. However, no good data exist on using rituximab in steroid-resistant nephrotic syndrome.</p>","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"3 1","pages":"211-219"},"PeriodicalIF":0.0,"publicationDate":"2023-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601923/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71415793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fabry Disease Presenting as End-Stage Kidney Disease.","authors":"Madeleine V Pahl,&nbsp;Jean Hou","doi":"10.1159/000533502","DOIUrl":"https://doi.org/10.1159/000533502","url":null,"abstract":"<p><strong>Background: </strong>Fabry disease (FD) is an X-linked disorder due to a pathogenic variant of the <i>GLA</i> gene that codes for the alpha-galactosidase enzyme. The reduced or absent activity of the enzyme results in lysosomal accumulation of globotriosylceramide and its derivative, globotriaosylsphingosine, in a variety of cells, leading to a variety of complications including cardiac, renal, and cerebrovascular disorders. Early diagnosis is critically important for the selection of therapeutic treatments, which are essential for improving outcomes. Here we present a case of FD diagnosed at the time of end-stage kidney disease presentation.</p><p><strong>Summary: </strong>A 40-year-old man with a history of seizures presented with increased serum creatinine, nephrotic rage proteinuria, and new-onset hypertension. A renal biopsy revealed numerous, whorled, and lamellated cytoplasmic inclusions in podocytes, glomerular peritubular capillary endothelial cells, mesangial cells, arterial myocytes, and interstitial macrophages. Ultrastructural analysis confirmed the presence of glycosphingolipid inclusions and enlarged lysosomes packed with multi-lamellated structures (\"zebra\" bodies). The findings were suggestive of a lysosomal storage disorder, and testing for alpha-galactosidase A levels revealed near-absent enzyme activity, confirming the diagnosis of advanced FD.</p><p><strong>Key messages: </strong>The diagnosis of FD can be challenging as the manifestations of the disease are nonspecific, and patients can present early with classical symptoms or late with non-classical patterns of involvement. We will discuss strategies to identify the disorder early by reviewing the classical and non-classical presentations and further outline currently available and potential future treatment options.</p>","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"3 1","pages":"189-196"},"PeriodicalIF":0.0,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71415791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}