{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:29:27Z","timestamp":1790753367048,"version":"4.1.0"},"reference-count":98,"publisher":"MDPI AG","issue":"22","license":[{"start":{"date-parts":[[2020,11,12]],"date-time":"2020-11-12T00:00:00Z","timestamp":1605139200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Steroid-resistant nephrotic syndrome (SRNS) is a clinical picture defined by the lack of response to standard steroid treatment, frequently progressing toward end-stage kidney disease. The genetic basis of SRNS has been thoroughly explored since the end of the 1990s and especially with the advent of next-generation sequencing. Genetic forms represent about 30% of cases of SRNS. However, recent evidence supports the hypothesis that \u201cphenocopies\u201d could account for a non-negligible fraction of SRNS patients who are currently classified as non-genetic, paving the way for a more comprehensive understanding of the genetic background of the disease. The identification of phenocopies is mandatory in order to provide patients with appropriate clinical management and to inform therapy. Extended genetic testing including phenocopy genes, coupled with reverse phenotyping, is recommended for all young patients with SRNS to avoid unnecessary and potentially harmful diagnostic procedures and treatment, and for the reclassification of the disease. The aim of this work is to review the main steps of the evolution of genetic testing in SRNS, demonstrating how a paradigm shifting from \u201cforward\u201d to \u201creverse\u201d genetics could significantly improve the identification of the molecular mechanisms of the disease, as well as the overall clinical management of affected patients.<\/jats:p>","DOI":"10.3390\/ijerph17228363","type":"journal-article","created":{"date-parts":[[2020,11,12]],"date-time":"2020-11-12T10:00:32Z","timestamp":1605175232000},"page":"8363","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Look Alike, Sound Alike: Phenocopies in Steroid-Resistant Nephrotic Syndrome"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1011-7291","authenticated-orcid":false,"given":"Francesca","family":"Becherucci","sequence":"first","affiliation":[{"name":"Pediatric Nephrology and Dialysis Unit, Meyer Children\u2019s Hospital, Viale Pieraccini 24, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7423-0325","authenticated-orcid":false,"given":"Samuela","family":"Landini","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Experimental and Clinical Science \u201cMario Serio\u201d, University of Florence, Viale Morgagni 50, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0440-7356","authenticated-orcid":false,"given":"Luigi","family":"Cirillo","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology and Dialysis Unit, Meyer Children\u2019s Hospital, Viale Pieraccini 24, 50139 Florence, Italy"},{"name":"Department of Biomedical, Experimental and Clinical Science \u201cMario Serio\u201d, University of Florence, Viale Morgagni 50, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2809-5622","authenticated-orcid":false,"given":"Benedetta","family":"Mazzinghi","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology and Dialysis Unit, Meyer Children\u2019s Hospital, Viale Pieraccini 24, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1774-8088","authenticated-orcid":false,"given":"Paola","family":"Romagnani","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology and Dialysis Unit, Meyer Children\u2019s Hospital, Viale Pieraccini 24, 50139 Florence, Italy"},{"name":"Department of Biomedical, Experimental and Clinical Science \u201cMario Serio\u201d, University of Florence, Viale Morgagni 50, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,12]]},"reference":[{"key":"ref_1","unstructured":"(2020, September 01). 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