Look Alike, Sound Alike: Phenocopies in Steroid-Resistant Nephrotic Syndrome

Francesca Becherucci, Samuela Landini, Luigi Cirillo, Benedetta Mazzinghi and Paola Romagnani
Additional contact information
Francesca Becherucci: Pediatric Nephrology and Dialysis Unit, Meyer Children’s Hospital, Viale Pieraccini 24, 50139 Florence, Italy
Samuela Landini: Department of Biomedical, Experimental and Clinical Science “Mario Serio”, University of Florence, Viale Morgagni 50, 50134 Florence, Italy
Luigi Cirillo: Pediatric Nephrology and Dialysis Unit, Meyer Children’s Hospital, Viale Pieraccini 24, 50139 Florence, Italy
Benedetta Mazzinghi: Pediatric Nephrology and Dialysis Unit, Meyer Children’s Hospital, Viale Pieraccini 24, 50139 Florence, Italy
Paola Romagnani: Pediatric Nephrology and Dialysis Unit, Meyer Children’s Hospital, Viale Pieraccini 24, 50139 Florence, Italy

IJERPH, 2020, vol. 17, issue 22, 1-17

Abstract: 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 “phenocopies” 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 “forward” to “reverse” genetics could significantly improve the identification of the molecular mechanisms of the disease, as well as the overall clinical management of affected patients.

Keywords: phenocopies; whole-exome sequencing; steroid-resistant nephrotic syndrome; genetics (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2020
References: View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.mdpi.com/1660-4601/17/22/8363/pdf (application/pdf)
https://www.mdpi.com/1660-4601/17/22/8363/ (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:gam:jijerp:v:17:y:2020:i:22:p:8363-:d:443652

Access Statistics for this article

IJERPH is currently edited by Ms. Jenna Liu

More articles in IJERPH from MDPI
Bibliographic data for series maintained by MDPI Indexing Manager ().