Journal article
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease
American journal of medical genetics. Part C, Seminars in medical genetics, Vol.190(3), pp.377-398
07/27/2022
DOI: 10.1002/ajmg.c.31990
PMCID: PMC9796580
PMID: 35894442
Appears in UI Libraries Support Open Access
Abstract
Focal segmental glomerulosclerosis (FSGS) is not a disease, rather a pattern of histological injury occurring from a variety of causes. The exact pathogenesis has yet to be fully elucidated but is likely varied based on the type of injury and the primary target of that injury. However, the approach to treatment is often based on the degree of podocyte foot process effacement and clinical presentation without sufficient attention paid to etiology. In this regard, there are many monogenic causes of FSGS with variable presentation from nephrotic syndrome with histological features of primary podocytopathy to more modest degrees of proteinuria with limited evidence of podocyte foot process injury. It is likely that genetic causes are largely underdiagnosed, as the role and the timing of genetic testing in FSGS is not established and genetic counseling, testing options, and interpretation of genotype in the context of phenotype may be outside the scope of practice for both nephrologists and geneticists. Yet most clinicians believe that a genetic diagnosis can lead to targeted therapy, limit the use of high-dose corticosteroids as a therapeutic trial, and allow the prediction of the natural history and risk for recurrence in the transplanted kidney. In this manuscript, we emphasize that genetic FSGS is not monolithic in its presentation, opine on the importance of genetic testing and provide an algorithmic approach to deployment of genetic testing in a timely fashion when faced with a patient with FSGS.
Details
- Title: Subtitle
- Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease
- Creators
- Meenakshi Sambharia - University of IowaPrerna Rastogi - University of IowaChristie P Thomas - University of Iowa
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part C, Seminars in medical genetics, Vol.190(3), pp.377-398
- DOI
- 10.1002/ajmg.c.31990
- PMID
- 35894442
- PMCID
- PMC9796580
- NLM abbreviation
- Am J Med Genet C Semin Med Genet
- eISSN
- 1552-4876
- Publisher
- Wiley
- Language
- English
- Date published
- 07/27/2022
- Academic Unit
- Stead Family Department of Pediatrics; Pathology; Obstetrics and Gynecology; Nephrology; Internal Medicine
- Record Identifier
- 9984296992202771
Metrics
14 Record Views