Infantile nephrotic syndrome with prominent facial dysmorphism: A possible case of Galloway-Mowat syndrome
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
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=S0872-01692014000200009 |
Resumo: | Galloway-Mowat syndrome is a rare hereditary disorder originally described as a triad of early-onset nephrotic syndrome, microcephaly, and hiatus hernia. Subsequent reports have expanded the clinical and pathological spectrum of the disorder. We describe a patient with this syndrome, a 14-month-old girl with infantile nephrotic syndrome having a protein to creatinine ratio of 6.1, microcephaly, low-set ears, hypertelorism, beaked nose, narrow-forehead, almond-shaped eyes, arachnodactyly, pinpoint pupils and myopia. Renal biopsy revealed diffuse mesangial sclerosis and focal microcystic dilatation of the tubules and magnetic resonance imaging of the brain showed diffuse cortical atrophy. The above constellation of features favours the diagnosis of our case as Galloway-Mowat syndrome |
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Infantile nephrotic syndrome with prominent facial dysmorphism: A possible case of Galloway-Mowat syndromeDiffuse cortical atrophydysmorphismmicrocephalynephrotic syndromerenal biopsyGalloway-Mowat syndrome is a rare hereditary disorder originally described as a triad of early-onset nephrotic syndrome, microcephaly, and hiatus hernia. Subsequent reports have expanded the clinical and pathological spectrum of the disorder. We describe a patient with this syndrome, a 14-month-old girl with infantile nephrotic syndrome having a protein to creatinine ratio of 6.1, microcephaly, low-set ears, hypertelorism, beaked nose, narrow-forehead, almond-shaped eyes, arachnodactyly, pinpoint pupils and myopia. Renal biopsy revealed diffuse mesangial sclerosis and focal microcystic dilatation of the tubules and magnetic resonance imaging of the brain showed diffuse cortical atrophy. The above constellation of features favours the diagnosis of our case as Galloway-Mowat syndromeSociedade Portuguesa de Nefrologia2014-06-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articletext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000200009Portuguese Journal of Nephrology & Hypertension v.28 n.2 2014reponame: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=S0872-01692014000200009Ahmed,AyazKhalid,AdeelQaiser,HabibSajjad,ReemaQader,SaimaHashmi,SeemaLanewala,AliKazi,Javed IqbalMubarak,Muhammedinfo:eu-repo/semantics/openAccess2024-02-06T17:04:45Zoai:scielo:S0872-01692014000200009Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:18:52.568Repositório 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 |
Infantile nephrotic syndrome with prominent facial dysmorphism: A possible case of Galloway-Mowat syndrome |
title |
Infantile nephrotic syndrome with prominent facial dysmorphism: A possible case of Galloway-Mowat syndrome |
spellingShingle |
Infantile nephrotic syndrome with prominent facial dysmorphism: A possible case of Galloway-Mowat syndrome Ahmed,Ayaz Diffuse cortical atrophy dysmorphism microcephaly nephrotic syndrome renal biopsy |
title_short |
Infantile nephrotic syndrome with prominent facial dysmorphism: A possible case of Galloway-Mowat syndrome |
title_full |
Infantile nephrotic syndrome with prominent facial dysmorphism: A possible case of Galloway-Mowat syndrome |
title_fullStr |
Infantile nephrotic syndrome with prominent facial dysmorphism: A possible case of Galloway-Mowat syndrome |
title_full_unstemmed |
Infantile nephrotic syndrome with prominent facial dysmorphism: A possible case of Galloway-Mowat syndrome |
title_sort |
Infantile nephrotic syndrome with prominent facial dysmorphism: A possible case of Galloway-Mowat syndrome |
author |
Ahmed,Ayaz |
author_facet |
Ahmed,Ayaz Khalid,Adeel Qaiser,Habib Sajjad,Reema Qader,Saima Hashmi,Seema Lanewala,Ali Kazi,Javed Iqbal Mubarak,Muhammed |
author_role |
author |
author2 |
Khalid,Adeel Qaiser,Habib Sajjad,Reema Qader,Saima Hashmi,Seema Lanewala,Ali Kazi,Javed Iqbal Mubarak,Muhammed |
author2_role |
author author author author author author author author |
dc.contributor.author.fl_str_mv |
Ahmed,Ayaz Khalid,Adeel Qaiser,Habib Sajjad,Reema Qader,Saima Hashmi,Seema Lanewala,Ali Kazi,Javed Iqbal Mubarak,Muhammed |
dc.subject.por.fl_str_mv |
Diffuse cortical atrophy dysmorphism microcephaly nephrotic syndrome renal biopsy |
topic |
Diffuse cortical atrophy dysmorphism microcephaly nephrotic syndrome renal biopsy |
description |
Galloway-Mowat syndrome is a rare hereditary disorder originally described as a triad of early-onset nephrotic syndrome, microcephaly, and hiatus hernia. Subsequent reports have expanded the clinical and pathological spectrum of the disorder. We describe a patient with this syndrome, a 14-month-old girl with infantile nephrotic syndrome having a protein to creatinine ratio of 6.1, microcephaly, low-set ears, hypertelorism, beaked nose, narrow-forehead, almond-shaped eyes, arachnodactyly, pinpoint pupils and myopia. Renal biopsy revealed diffuse mesangial sclerosis and focal microcystic dilatation of the tubules and magnetic resonance imaging of the brain showed diffuse cortical atrophy. The above constellation of features favours the diagnosis of our case as Galloway-Mowat syndrome |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-06-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000200009 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000200009 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000200009 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
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.28 n.2 2014 reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
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 |
repository.mail.fl_str_mv |
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1799137279031115776 |