The urine as a diagnostic key for a homozygous EGFR mutation
Autor(a) principal: | |
---|---|
Data de Publicação: | 2022 |
Outros Autores: | , , , |
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=S0872-01692022000100015 |
Resumo: | ABSTRACT Primary inherited epidermal growth factor receptor defects have recently been described in severe inflammatory skin disease and diarrhoea case reports. We describe two case reports of female preterm newborns of Roma consanguineous parents who presented both with alopecia and erythroderma/ichthyosis, in addition to nephromegaly at birth in case 1. Later, they both developed hypomagnesaemia and other severe hydroelectrolyte disturbances, recurrent life-threatening sepsis and failure to thrive. Exome sequencing identified a homozygous mutation in the epidermal growth factor receptor, rarely described. Despite optimization of medical supportive care, the prognosis was poor and both patients died before the first year of life. There are few similar cases of epidermal growth factor receptor homozygous mutation reported so far. Our manuscript describes the genetics, clinical presentation, and complex treatment of our two patients, aiming to contribute to new advances in the management of this condition. |
id |
RCAP_afb4bfb8963c4d4e041aaf7e8b5a088b |
---|---|
oai_identifier_str |
oai:scielo:S0872-01692022000100015 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
The urine as a diagnostic key for a homozygous EGFR mutationEpidermal growth factorepidermal growth factor mutationerythrodermahypomagnesaemiaichthyosisnephromegalyprimary ImmunodeficiencyABSTRACT Primary inherited epidermal growth factor receptor defects have recently been described in severe inflammatory skin disease and diarrhoea case reports. We describe two case reports of female preterm newborns of Roma consanguineous parents who presented both with alopecia and erythroderma/ichthyosis, in addition to nephromegaly at birth in case 1. Later, they both developed hypomagnesaemia and other severe hydroelectrolyte disturbances, recurrent life-threatening sepsis and failure to thrive. Exome sequencing identified a homozygous mutation in the epidermal growth factor receptor, rarely described. Despite optimization of medical supportive care, the prognosis was poor and both patients died before the first year of life. There are few similar cases of epidermal growth factor receptor homozygous mutation reported so far. Our manuscript describes the genetics, clinical presentation, and complex treatment of our two patients, aiming to contribute to new advances in the management of this condition.Sociedade Portuguesa de Nefrologia2022-03-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000100015Portuguese Journal of Nephrology & Hypertension v.36 n.1 2022reponame: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=S0872-01692022000100015Santos,Mafalda CasinhasAlmendra,MargaridaBota,SofiaRamos,HelenaFrancisco,Telmainfo:eu-repo/semantics/openAccess2024-02-06T17:05:13Zoai:scielo:S0872-01692022000100015Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:19:07.115175Repositório 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 |
The urine as a diagnostic key for a homozygous EGFR mutation |
title |
The urine as a diagnostic key for a homozygous EGFR mutation |
spellingShingle |
The urine as a diagnostic key for a homozygous EGFR mutation Santos,Mafalda Casinhas Epidermal growth factor epidermal growth factor mutation erythroderma hypomagnesaemia ichthyosis nephromegaly primary Immunodeficiency |
title_short |
The urine as a diagnostic key for a homozygous EGFR mutation |
title_full |
The urine as a diagnostic key for a homozygous EGFR mutation |
title_fullStr |
The urine as a diagnostic key for a homozygous EGFR mutation |
title_full_unstemmed |
The urine as a diagnostic key for a homozygous EGFR mutation |
title_sort |
The urine as a diagnostic key for a homozygous EGFR mutation |
author |
Santos,Mafalda Casinhas |
author_facet |
Santos,Mafalda Casinhas Almendra,Margarida Bota,Sofia Ramos,Helena Francisco,Telma |
author_role |
author |
author2 |
Almendra,Margarida Bota,Sofia Ramos,Helena Francisco,Telma |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Santos,Mafalda Casinhas Almendra,Margarida Bota,Sofia Ramos,Helena Francisco,Telma |
dc.subject.por.fl_str_mv |
Epidermal growth factor epidermal growth factor mutation erythroderma hypomagnesaemia ichthyosis nephromegaly primary Immunodeficiency |
topic |
Epidermal growth factor epidermal growth factor mutation erythroderma hypomagnesaemia ichthyosis nephromegaly primary Immunodeficiency |
description |
ABSTRACT Primary inherited epidermal growth factor receptor defects have recently been described in severe inflammatory skin disease and diarrhoea case reports. We describe two case reports of female preterm newborns of Roma consanguineous parents who presented both with alopecia and erythroderma/ichthyosis, in addition to nephromegaly at birth in case 1. Later, they both developed hypomagnesaemia and other severe hydroelectrolyte disturbances, recurrent life-threatening sepsis and failure to thrive. Exome sequencing identified a homozygous mutation in the epidermal growth factor receptor, rarely described. Despite optimization of medical supportive care, the prognosis was poor and both patients died before the first year of life. There are few similar cases of epidermal growth factor receptor homozygous mutation reported so far. Our manuscript describes the genetics, clinical presentation, and complex treatment of our two patients, aiming to contribute to new advances in the management of this condition. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-03-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000100015 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000100015 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000100015 |
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.36 n.1 2022 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 |
|
_version_ |
1799137280815792128 |