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Braunisch, M.C.* ; Riedhammer, K.M.* ; Herr, P.M.* ; Draut, S.* ; Günthner, R.* ; Wagner, M. ; Weidenbusch, M.* ; Lungu, A.* ; Alhaddad, B.* ; Renders, L.* ; Strom, T.M. ; Heemann, U.* ; Meitinger, T. ; Schmaderer, C.* ; Hoefele, J.*

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.

Eur. J. Hum. Genet. 29, 262–270 (2021)

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In about 30% of infantile, juvenile, or adolescent patients with steroid-resistant nephrotic syndrome (SRNS), a monogenic cause can be identified. The histological finding in SRNS is often focal segmental glomerulosclerosis (FSGS). Genetic data on adult patients are scarce with low diagnostic yields. Exome sequencing (ES) was performed in patients with adult disease onset and a high likelihood for hereditary FSGS. A high likelihood was defined if at least one of the following criteria was present: absence of a secondary cause, <= 25 years of age at initial manifestation, kidney biopsy with suspicion of a hereditary cause, extrarenal manifestations, and/or positive familial history/reported consanguinity. Patients were excluded if age at disease onset was <18 years. In 7/24 index patients with adult disease onset, a disease-causing variant could be identified by ES leading to a diagnostic yield of 29%. Eight different variants were identified in six known genes associated with monogenic kidney diseases. Six of these variants had been described before as disease-causing. In patients with a disease-causing variant, the median age at disease onset and end-stage renal disease was 26 and 38 years, respectively. The overall median time to a definite genetic diagnosis was 9 years. In 29% of patients with adult disease onset and suspected hereditary FSGS, a monogenic cause could be identified. The long delay up to the definite genetic diagnosis highlights the importance of obtaining an early genetic diagnosis to allow for personalized treatment options including weaning of immunosuppressive treatment, avoidance of repeated renal biopsy, and provision of accurate genetic counseling.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Focal Segmental Glomerulosclerosis; Resistant Nephrotic Syndrome; Steroid-resistant; Alport Syndrome; Mutations; Onset; Guidelines; Children

ISSN (print) / ISBN 1018-4813

e-ISSN 1476-5438

Journal European Journal of Human Genetics

Quellenangaben Volume: 29, Pages: 262–270

Publisher Nature Publishing Group

Publishing Place Macmillan Building, 4 Crinan St, London N1 9xw, England

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Neurogenomics (ING)
Institute of Human Genetics (IHG)

Grants Projekt DEAL
Technical University of Munich (TUM)
German Research Foundation (DFG)