Academic Journal
Genetic testing in focal segmental glomerulosclerosis: in whom and when?
| العنوان: | Genetic testing in focal segmental glomerulosclerosis: in whom and when? |
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| المؤلفون: | Tato, Ana María, Carrera, Noa, García-Murias, María, Shabaka, Amir, Ávila, Ana, MORA MORA, MARIA TERESA, García-Carro, Clara |
| المساهمون: | Institut Català de la Salut, Tato AM, Shabaka A Department of Nephrology, Hospital Universitario Fundación Alcorcón, Alcorcón, Spain. Carrera N, García-Murias M Laboratorio de Nefroloxía (No. 11), Grupo de Xenética e Bioloxía do Desenvolvemento das Enfermidades Renais, Instituto de investigación sanitaria de Santiago de Compostela – IDIS, Santiago de Compostela, Spain. Ávila A Department of Nephrology, Hospital Universitario Doctor Peset, Valencia, Spain. Mora Mora MT Department of Nephrology, Hospital Universitario Juan Ramón Jiménez, Huelva, Spain. García-Carro C Servei de Nefrologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus |
| المصدر: | Scientia |
| بيانات النشر: | Oxford University Press |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | Cromosomes humans - Anomalies - Diagnòstic, Glomerulosclerosi - Aspectes genètics, Glomerulosclerosi - Diagnòstic, DISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Nephritis::Glomerulonephritis::Glomerulosclerosis, Focal Segmental, DISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Nephrosis::Nephrotic Syndrome, Other subheadings::Other subheadings::Other subheadings::/genetics, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing, ENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::nefritis::glomerulonefritis::glomeruloesclerosis focal, ENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::nefrosis::síndrome nefrótico, Otros calificadores::Otros calificadores::Otros calificadores::/genética, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas |
| الوصف: | Hereditary diseases; Nephrotic syndrome; Steroid-resistant ; Enfermedades hereditarias; Síndrome nefrótico; Resistente a los esteroides ; Malalties hereditàries; Síndrome nefròtica; Resistent als esteroides ; Background Genetic causes are increasingly recognized in patients with focal segmental glomerulosclerosis (FSGS), but it remains unclear which patients should undergo genetic study. Our objective was to determine the frequency and distribution of genetic variants in steroid-resistant nephrotic syndrome FSGS (SRNS-FSGS) and in FSGS of undetermined cause (FSGS-UC). Methods We performed targeted exome sequencing of 84 genes associated with glomerulopathy in patients with adult-onset SRNS-FSGS or FSGS-UC after ruling out secondary causes. Results Seventy-six patients met the study criteria; 24 presented with SRNS-FSGS and 52 with FSGS-UC. We detected FSGS-related disease-causing variants in 27/76 patients (35.5%). There were no differences between genetic and non-genetic causes in age, proteinuria, glomerular filtration rate, serum albumin, body mass index, hypertension, diabetes or family history. Hematuria was more prevalent among patients with genetic causes. We found 19 pathogenic variants in COL4A3–5 genes in 16 (29.3%) patients. NPHS2 mutations were identified in 6 (16.2%) patients. The remaining cases had variants affecting INF2, OCRL, ACTN4 genes or APOL1 high-risk alleles. FSGS-related genetic variants were more common in SRNS-FSGS than in FSGS-UC (41.7% vs 32.7%). Four SRNS-FSGS patients presented with NPHS2 disease-causing variants. COL4A variants were the most prevalent finding in FSGS-UC patients, with 12 patients carrying disease-causing variants in these genes. Conclusions FSGS-related variants were detected in a substantial number of patients with SRNS-FSGS or FSGS-UC, regardless of age of onset of disease or the patient's family history. In our experience, genetic testing should be performed in routine clinical practice for the diagnosis of this group of patients. ; This work was supported by ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2048-8505 37915894 |
| Relation: | Clinical Kidney Journal;16(11); https://doi.org/10.1093/ckj/sfad193; Tato AM, Carrera N, García-Murias M, Shabaka A, Ávila A, Mora Mora T, et al. Genetic testing in focal segmental glomerulosclerosis: in whom and when?. Clin Kidney J. 2023 Nov;16(11):2011–22.; https://hdl.handle.net/11351/10617; 001066153100001 |
| DOI: | 10.1093/ckj/sfad193 |
| الاتاحة: | https://hdl.handle.net/11351/10617 https://doi.org/10.1093/ckj/sfad193 |
| Rights: | Attribution-NonCommercial 4.0 International ; http://creativecommons.org/licenses/by-nc/4.0/ ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.E220F09 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 20488505 37915894 |
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| DOI: | 10.1093/ckj/sfad193 |