Publicação
The urine as a diagnostic key for a homozygous EGFR mutation
| 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. |
|---|---|
| Autores principais: | Santos,Mafalda Casinhas |
| Outros Autores: | Almendra,Margarida; Bota,Sofia; Ramos,Helena; Francisco,Telma |
| Assunto: | Epidermal growth factor epidermal growth factor mutation erythroderma hypomagnesaemia ichthyosis nephromegaly primary Immunodeficiency |
| Ano: | 2022 |
| País: | Portugal |
| Tipo de documento: | relatório |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Fundação para a Ciência e Tecnologia |
| Idioma: | inglês |
| Origem: | SciELO Portugal |
| _version_ | 1868441695883886592 |
|---|---|
| author | Santos,Mafalda Casinhas |
| author2 | Almendra,Margarida Bota,Sofia Ramos,Helena Francisco,Telma |
| author2_role | author author author author |
| author_facet | Santos,Mafalda Casinhas Almendra,Margarida Bota,Sofia Ramos,Helena Francisco,Telma |
| author_role | author |
| country_str | PT |
| creators_json_txt | [{\"Person.name\":\"Santos,Mafalda Casinhas\"},{\"Person.name\":\"Almendra,Margarida\"},{\"Person.name\":\"Bota,Sofia\"},{\"Person.name\":\"Ramos,Helena\"},{\"Person.name\":\"Francisco,Telma\"}] |
| datacite.creators.creator.creatorName.fl_str_mv | Santos,Mafalda Casinhas Almendra,Margarida Bota,Sofia Ramos,Helena Francisco,Telma |
| datacite.rights.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| datacite.subjects.subject.fl_str_mv | Epidermal growth factor epidermal growth factor mutation erythroderma hypomagnesaemia ichthyosis nephromegaly primary Immunodeficiency |
| datacite.titles.title.fl_str_mv | The urine as a diagnostic key for a homozygous EGFR mutation |
| dc.creator.none.fl_str_mv | Santos,Mafalda Casinhas Almendra,Margarida Bota,Sofia Ramos,Helena Francisco,Telma |
| dc.format.none.fl_str_mv | text/html |
| dc.identifier.none.fl_str_mv | http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000100015 |
| dc.language.none.fl_str_mv | eng |
| dc.publisher.none.fl_str_mv | Sociedade Portuguesa de Nefrologia |
| dc.rights.none.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| dc.source.none.fl_str_mv | Portuguese Journal of Nephrology & Hypertension v.36 n.1 2022 |
| dc.subject.none.fl_str_mv | Epidermal growth factor epidermal growth factor mutation erythroderma hypomagnesaemia ichthyosis nephromegaly primary Immunodeficiency |
| dc.title.fl_str_mv | The urine as a diagnostic key for a homozygous EGFR mutation |
| dc.type.none.fl_str_mv | http://purl.org/coar/resource_type/c_93fc |
| 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. |
| dirty | 0 |
| eu_rights_str_mv | openAccess |
| format | report |
| id | scielopt_afb4bfb8963c4d4e041aaf7e8b5a088b |
| identifier.url.fl_str_mv | http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000100015 |
| instacron_str | SciELO |
| institution | Fundação para a Ciência e Tecnologia |
| instname_str | Fundação para a Ciência e Tecnologia |
| language | eng |
| network_acronym_str | scielopt |
| network_name_str | SciELO Portugal |
| oai_identifier_str | oai:scielo:S0872-01692022000100015 |
| organization_str_mv | urn:organizationAcronym:scielo |
| person_str_mv | Santos,Mafalda Casinhas Almendra,Margarida Bota,Sofia Ramos,Helena Francisco,Telma |
| publishDate | 2022 |
| publisher.none.fl_str_mv | Sociedade Portuguesa de Nefrologia |
| reponame_str | SciELO Portugal |
| repository_id_str | urn:repositoryAcronym:scielopt |
| service_str_mv | urn:repositoryAcronym:scielopt |
| spelling | The urine as a diagnostic key for a homozygous EGFR mutationSantos,Mafalda CasinhasAlmendra,MargaridaBota,SofiaRamos,HelenaFrancisco,TelmaEpidermal growth factorepidermal growth factor mutationerythrodermahypomagnesaemiaichthyosisnephromegalyprimary Immunodeficiencyopen accesshttp://purl.org/coar/access_right/c_abf2http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000100015URLhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000100015URLHasVersion2022-03-01ABSTRACT 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 NefrologiaPortuguese Journal of Nephrology & Hypertension v.36 n.1 2022text/htmlengreporthttp://purl.org/coar/resource_type/c_93fcother research product |
| 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 |
| status | SINGLETON |
| subject.fl_str_mv | Epidermal growth factor epidermal growth factor mutation erythroderma hypomagnesaemia ichthyosis nephromegaly primary Immunodeficiency |
| title | 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_short | The urine as a diagnostic key for a homozygous EGFR mutation |
| title_sort | The urine as a diagnostic key for a homozygous EGFR mutation |
| topic | Epidermal growth factor epidermal growth factor mutation erythroderma hypomagnesaemia ichthyosis nephromegaly primary Immunodeficiency |
| topic_facet | Epidermal growth factor epidermal growth factor mutation erythroderma hypomagnesaemia ichthyosis nephromegaly primary Immunodeficiency |
| url | http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000100015 |
| visible | 1 |