Adult-Onset Genetic Focal Segmental Glomerulosclerosis: A Tale of Two Mutations

Detalhes bibliográficos
Autor(a) principal: Sousa,Luís Leite de
Data de Publicação: 2023
Outros Autores: Pimenta,Gonçalo, Veríssimo,Rita, Theias,Rita, Carvalho,Tiago
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692023000100040
Resumo: ABSTRACT Focal segmental glomerulosclerosis (FSGS) is a kidney histologic lesion that may be caused by multiple aetiologies and pathophysiological mechanisms, with podocyte injury and depletion as the common denominator. FSGS may be subdivided into different subclasses: primary, secondary, genetic and unknown forms. Notwithstanding the overlapping clinical and histological characteristics across the different forms of FSGS, their management and response to treatment are strikingly different. Genetic FSGS may be suggested by the appearance of nephrotic syndrome during childhood, but it may also present in adulthood, where the diagnosis is rather challenging due to widely variable clinical and histological phenotypes. Herein we present the case of a 34-year-old female with a family history of chronic kidney disease of undetermined aetiology, referred for a Nephrology consultation due to haematoproteinuria and de novo arterial hypertension. Complementary evaluation revealed a urinary protein/creatinine ratio of 4.3 g/g and albumin/creatinine ratio of 3.9 g/g with hypoalbuminaemia. Kidney biopsy revealed lesions of FSGS, associated with extensive foot process effacement. The constellation of findings and family history of kidney disease raised the suspicion of a genetic cause, therefore genetic testing was performed. Two variants in the NPHS2 gene [c.686G>A, p.(Arg229Gln) and c.855_856del, p(Arg286Thrfs*17)] were found in compound heterozygosity, compatible with the diagnosis of genetic FSGS. This case highlights the importance of a detailed evaluation of patients with FSGS lesions in order to identify the FSGS form, given its therapeutic and prognostic impact, including after kidney transplantation.
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spelling Adult-Onset Genetic Focal Segmental Glomerulosclerosis: A Tale of Two MutationsGlomerulosclerosis, Focal Segmental/diagnosisGlomerulosclerosis, Focal Segmental/geneticsABSTRACT Focal segmental glomerulosclerosis (FSGS) is a kidney histologic lesion that may be caused by multiple aetiologies and pathophysiological mechanisms, with podocyte injury and depletion as the common denominator. FSGS may be subdivided into different subclasses: primary, secondary, genetic and unknown forms. Notwithstanding the overlapping clinical and histological characteristics across the different forms of FSGS, their management and response to treatment are strikingly different. Genetic FSGS may be suggested by the appearance of nephrotic syndrome during childhood, but it may also present in adulthood, where the diagnosis is rather challenging due to widely variable clinical and histological phenotypes. Herein we present the case of a 34-year-old female with a family history of chronic kidney disease of undetermined aetiology, referred for a Nephrology consultation due to haematoproteinuria and de novo arterial hypertension. Complementary evaluation revealed a urinary protein/creatinine ratio of 4.3 g/g and albumin/creatinine ratio of 3.9 g/g with hypoalbuminaemia. Kidney biopsy revealed lesions of FSGS, associated with extensive foot process effacement. The constellation of findings and family history of kidney disease raised the suspicion of a genetic cause, therefore genetic testing was performed. Two variants in the NPHS2 gene [c.686G>A, p.(Arg229Gln) and c.855_856del, p(Arg286Thrfs*17)] were found in compound heterozygosity, compatible with the diagnosis of genetic FSGS. This case highlights the importance of a detailed evaluation of patients with FSGS lesions in order to identify the FSGS form, given its therapeutic and prognostic impact, including after kidney transplantation.Sociedade Portuguesa de Nefrologia2023-03-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692023000100040Portuguese Journal of Nephrology & Hypertension v.37 n.1 2023reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692023000100040Sousa,Luís Leite dePimenta,GonçaloVeríssimo,RitaTheias,RitaCarvalho,Tiagoinfo:eu-repo/semantics/openAccess2024-02-06T17:05:16Zoai:scielo:S0872-01692023000100040Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:19:09.439455Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Adult-Onset Genetic Focal Segmental Glomerulosclerosis: A Tale of Two Mutations
title Adult-Onset Genetic Focal Segmental Glomerulosclerosis: A Tale of Two Mutations
spellingShingle Adult-Onset Genetic Focal Segmental Glomerulosclerosis: A Tale of Two Mutations
Sousa,Luís Leite de
Glomerulosclerosis, Focal Segmental/diagnosis
Glomerulosclerosis, Focal Segmental/genetics
title_short Adult-Onset Genetic Focal Segmental Glomerulosclerosis: A Tale of Two Mutations
title_full Adult-Onset Genetic Focal Segmental Glomerulosclerosis: A Tale of Two Mutations
title_fullStr Adult-Onset Genetic Focal Segmental Glomerulosclerosis: A Tale of Two Mutations
title_full_unstemmed Adult-Onset Genetic Focal Segmental Glomerulosclerosis: A Tale of Two Mutations
title_sort Adult-Onset Genetic Focal Segmental Glomerulosclerosis: A Tale of Two Mutations
author Sousa,Luís Leite de
author_facet Sousa,Luís Leite de
Pimenta,Gonçalo
Veríssimo,Rita
Theias,Rita
Carvalho,Tiago
author_role author
author2 Pimenta,Gonçalo
Veríssimo,Rita
Theias,Rita
Carvalho,Tiago
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Sousa,Luís Leite de
Pimenta,Gonçalo
Veríssimo,Rita
Theias,Rita
Carvalho,Tiago
dc.subject.por.fl_str_mv Glomerulosclerosis, Focal Segmental/diagnosis
Glomerulosclerosis, Focal Segmental/genetics
topic Glomerulosclerosis, Focal Segmental/diagnosis
Glomerulosclerosis, Focal Segmental/genetics
description ABSTRACT Focal segmental glomerulosclerosis (FSGS) is a kidney histologic lesion that may be caused by multiple aetiologies and pathophysiological mechanisms, with podocyte injury and depletion as the common denominator. FSGS may be subdivided into different subclasses: primary, secondary, genetic and unknown forms. Notwithstanding the overlapping clinical and histological characteristics across the different forms of FSGS, their management and response to treatment are strikingly different. Genetic FSGS may be suggested by the appearance of nephrotic syndrome during childhood, but it may also present in adulthood, where the diagnosis is rather challenging due to widely variable clinical and histological phenotypes. Herein we present the case of a 34-year-old female with a family history of chronic kidney disease of undetermined aetiology, referred for a Nephrology consultation due to haematoproteinuria and de novo arterial hypertension. Complementary evaluation revealed a urinary protein/creatinine ratio of 4.3 g/g and albumin/creatinine ratio of 3.9 g/g with hypoalbuminaemia. Kidney biopsy revealed lesions of FSGS, associated with extensive foot process effacement. The constellation of findings and family history of kidney disease raised the suspicion of a genetic cause, therefore genetic testing was performed. Two variants in the NPHS2 gene [c.686G>A, p.(Arg229Gln) and c.855_856del, p(Arg286Thrfs*17)] were found in compound heterozygosity, compatible with the diagnosis of genetic FSGS. This case highlights the importance of a detailed evaluation of patients with FSGS lesions in order to identify the FSGS form, given its therapeutic and prognostic impact, including after kidney transplantation.
publishDate 2023
dc.date.none.fl_str_mv 2023-03-01
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dc.publisher.none.fl_str_mv Sociedade Portuguesa de Nefrologia
publisher.none.fl_str_mv Sociedade Portuguesa de Nefrologia
dc.source.none.fl_str_mv Portuguese Journal of Nephrology & Hypertension v.37 n.1 2023
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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