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1.
Allergol. immunopatol ; 47(1): 12-15, ene.-feb. 2019. graf
Artigo em Inglês | IBECS | ID: ibc-180765

RESUMO

Introduction and objectives: Profilin is a panallergen contained in pollen, plant foods and latex. Although cross-reactivity is expected while performing skin prick tests (SPT) with allergens that contain profilin, this is not always noticed. The purpose of this study was to detect if profilin is contained in the commercial SPT extracts of pollen and plant foods which, in their fresh form, contain determined epitopes of profilin. Material and methods: Commercial SPT extracts of different pharmaceuticals were analyzed using sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE). The study included purified palm date profilin, peach (whole, pulp and peel extracts), hazelnut, Olea europea, Parietaria judaica and Phleum pratense. Results: Profilin was detected in all, but peach extracts; it was neither contained in the whole peach extract nor in the ones of peel or pulp. Conclusion: The only accurate way to detect sensitization to profilin, while performing SPT, is the use of purified profilin extract. Even if a plant food or pollen contain an identified molecule of profilin, the relevant SPT commercial extract may not


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Assuntos
Humanos , Alérgenos/metabolismo , Antígenos de Plantas/metabolismo , Hipersensibilidade/diagnóstico , Extratos Vegetais/metabolismo , Erros de Diagnóstico/prevenção & controle , Profilinas/metabolismo , Testes Cutâneos/métodos , Alérgenos/imunologia , Antígenos de Plantas/imunologia , Reações Cruzadas , Frutas/imunologia , Olea/imunologia , Parietaria/imunologia , Extratos Vegetais/imunologia , Pólen/imunologia , Profilinas/imunologia , Prunus persica/imunologia
2.
Allergol Immunopathol (Madr) ; 47(1): 12-15, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30193888

RESUMO

INTRODUCTION AND OBJECTIVES: Profilin is a panallergen contained in pollen, plant foods and latex. Although cross-reactivity is expected while performing skin prick tests (SPT) with allergens that contain profilin, this is not always noticed. The purpose of this study was to detect if profilin is contained in the commercial SPT extracts of pollen and plant foods which, in their fresh form, contain determined epitopes of profilin. MATERIAL AND METHODS: Commercial SPT extracts of different pharmaceuticals were analyzed using sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE). The study included purified palm date profilin, peach (whole, pulp and peel extracts), hazelnut, Olea europea, Parietaria judaica and Phleum pratense. RESULTS: Profilin was detected in all, but peach extracts; it was neither contained in the whole peach extract nor in the ones of peel or pulp. CONCLUSION: The only accurate way to detect sensitization to profilin, while performing SPT, is the use of purified profilin extract. Even if a plant food or pollen contain an identified molecule of profilin, the relevant SPT commercial extract may not.


Assuntos
Alérgenos/metabolismo , Antígenos de Plantas/metabolismo , Hipersensibilidade/diagnóstico , Extratos Vegetais/metabolismo , Profilinas/metabolismo , Testes Cutâneos/métodos , Alérgenos/imunologia , Antígenos de Plantas/imunologia , Reações Cruzadas , Erros de Diagnóstico/prevenção & controle , Frutas/imunologia , Humanos , Olea/imunologia , Parietaria/imunologia , Extratos Vegetais/imunologia , Pólen/imunologia , Profilinas/imunologia , Prunus persica/imunologia
3.
Clin Genet ; 92(5): 517-527, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28632965

RESUMO

Familial microscopic hematuria (FMH) is associated with a genetically heterogeneous group of conditions including the collagen-IV nephropathies, the heritable C3/CFHR5 nephropathy and the glomerulopathy with fibronectin deposits. The clinical course varies widely, ranging from isolated benign familial hematuria to end-stage renal disease (ESRD) later in life. We investigated 24 families using next generation sequencing (NGS) for 5 genes: COL4A3, COL4A4, COL4A5, CFHR5 and FN1. In 17 families (71%), we found 15 pathogenic mutations in COL4A3/A4/A5, 9 of them novel. In 5 families patients inherited classical AS with hemizygous X-linked COL4A5 mutations. Even more patients developed later-onset Alport-related nephropathy having inherited heterozygous COL4A3/A4 mutations that cause thin basement membranes. Amongst 62 heterozygous or hemizygous patients, 8 (13%) reached ESRD, while 25% of patients with heterozygous COL4A3/A4 mutations, aged >50-years, reached ESRD. In conclusion, COL4A mutations comprise a frequent cause of FMH. Heterozygous COL4A3/A4 mutations predispose to renal function impairment, supporting that thin basement membrane nephropathy is not always benign. The molecular diagnosis is essential for differentiating the X-linked from the autosomal recessive and dominant inheritance. Finally, NGS technology is established as the gold standard for the diagnosis of FMH and associated collagen-IV glomerulopathies, frequently averting the need for invasive renal biopsies.


Assuntos
Colágeno Tipo IV/genética , Glomerulosclerose Segmentar e Focal/genética , Hematúria/genética , Mutação/genética , Nefrite Hereditária/genética , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Família , Feminino , Membrana Basal Glomerular/patologia , Membrana Basal Glomerular/ultraestrutura , Glomerulosclerose Segmentar e Focal/complicações , Hematúria/complicações , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Nefrite Hereditária/complicações , Linhagem , Penetrância , Adulto Jovem
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