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1.
Prenat Diagn ; 32(12): 1139-42, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22991067

RESUMO

OBJECTIVE: Nonimmune hydrops fetalis (NIHF) is defined by the excessive fluid accumulation in more than one foetal compartments and body cavities because of nonimmune reasons. It has been described that 14 lysosomal diseases may be causative of NIHF. The aim of this study was to design a fast protocol to investigate the most frequent lysosomal diseases that are reported that may cause NIHF. METHOD: We analysed the glycosaminoglycans excretion in the amniotic fluid supernatant and four different lysosomal enzymatic activities in the amniotic cultured cells of the different NIHF amniotic fluids we received. RESULTS: We investigated 30 NIHF cases, using this fast protocol. We detected two cases of NIHF because of lysosomal diseases, which represent 6.6%. We diagnosed one case of mucopolysaccharidosis type VII and one case of Gaucher disease. CONCLUSION: The fast protocol we designed analyses seven of the most frequent lysosomal pathologies that have been described that may cause NIHF, with only five different determinations, which make the analysis of NIHF fast, cost-effective and without need of too much amniotic fluid. We believe this protocol may be useful for the analysis of lysosomal diseases in NIHF.


Assuntos
Hidropisia Fetal/diagnóstico , Hidropisia Fetal/etiologia , Doenças por Armazenamento dos Lisossomos/complicações , Doenças por Armazenamento dos Lisossomos/diagnóstico , Diagnóstico Pré-Natal/métodos , Adulto , Líquido Amniótico/química , Líquido Amniótico/citologia , Líquido Amniótico/metabolismo , Feminino , Doença de Gaucher/complicações , Doença de Gaucher/diagnóstico , Doença de Gaucher/diagnóstico por imagem , Humanos , Hidropisia Fetal/epidemiologia , Hidropisia Fetal/metabolismo , Doenças por Armazenamento dos Lisossomos/epidemiologia , Gravidez , Fatores de Tempo , Ultrassonografia
2.
Hum Mutat ; 22(3): 258, 2003 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12938095

RESUMO

Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A gene (GLA). Here we report molecular studies in 22 unrelated Spanish patients with Fabry disease ( 20 males and two females). Fifteen novel mutations were identified. In addition 7 previously described mutations and two previously reported polymorphisms were detected. The 15 novel mutations comprise: eight missense E48K (c.142G>A), W81S (c.242G>C), D170H (c.508G>C), W226C (c.678G>T), Q279R (c.836A>G), C382Y (c.1145G>A), I407K (c.1220T>A), L414S (c.1241T>C); one nonsense W95X (c.284G>A); one insertion Y216fsX15 (c.646_647insT); two small deletions G346fsX1 (c.1037delG), K426fsX23 (c.1277_1278delAA); one gross deletion comprising exons 5, 6, 7; one complex mutation (insertion and deletion) A368fsX24 (c.1102delGinsTTATAC), and one splice-site mutation IVS4+1G>A (c.639+1G>A). One of the females was found homozygous for Q279R mutation and she presented with the classic phenotype since the age of 8 years, this case extending into women the severe phenotype observed in classically affected males. Mutation analysis provided precise identification for 30 heterozygotes among female relatives and detection of a de novo mutation. The molecular studies on Spanish Fabry patients here reported further contribute to the identification of new mutations in this disease, and allow reliable detection of heterozygotes which has consequences for genetic counselling and for treatment.


Assuntos
Doença de Fabry/enzimologia , Doença de Fabry/genética , Homozigoto , Mutação , alfa-Galactosidase/genética , Adolescente , Adulto , Criança , Doença de Fabry/epidemiologia , Feminino , Triagem de Portadores Genéticos , Humanos , Masculino , Espanha/epidemiologia
3.
Med Clin (Barc) ; 137 Suppl 1: 12-6, 2011 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-22230120

RESUMO

Gaucher's disease (GD) is an inherited metabolic disease due to lack of activity of the enzyme betaglucocerebrosidase. The diagnosis of GD is usually performed by fluorimetric analysis of the enzyme betaglucocerebrosidase. It can also be done by measuring the activity of tandem mass spectrometry. This enzyme can be analyzed in different samples such as leukocytes, fibroblasts, blood dried on paper and in case of prenatal diagnosis in chorionic villi or culture of amniocytes. Various biomarkers have been described for monitoring GD once diagnosed, to evaluate the response to potential treatments. Chitotriosidase activity is the most widely used biomarker for the assessment of GD, and for patients homozygous for the null CHIT1 gene variants, in general, is replaced by the analysis of the biomarker CCL18.


Assuntos
Doença de Gaucher/diagnóstico , Glucosilceramidase/análise , Hexosaminidases/análise , Biomarcadores/análise , Quimiocinas CC/análise , Fibroblastos/enzimologia , Doença de Gaucher/enzimologia , Doença de Gaucher/genética , Glucosilceramidase/genética , Hexosaminidases/genética , Humanos , Leucócitos/enzimologia
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