伴或不伴眼部异常的脑小血管病1型(Brain small vessel disease 1 with or without ocular anomalies,BSVD1)是由COL4A1基因变异导致的IV型胶原蛋白异常相关的疾病[1-2]。该基因变异导致的表型谱非常广泛,包括脑白质病、脑穿通畸形、脑...伴或不伴眼部异常的脑小血管病1型(Brain small vessel disease 1 with or without ocular anomalies,BSVD1)是由COL4A1基因变异导致的IV型胶原蛋白异常相关的疾病[1-2]。该基因变异导致的表型谱非常广泛,包括脑白质病、脑穿通畸形、脑裂畸形、脑出血、脑钙化、遗传性血管病伴肾病。展开更多
Background: We have reported that in patients with chronic idiopathic urticaria (CIU) who reacted adversely to aspirin, the frequency of the -444C allele of the leukotriene C4 synthase gene (LTC4S) was higher than in ...Background: We have reported that in patients with chronic idiopathic urticaria (CIU) who reacted adversely to aspirin, the frequency of the -444C allele of the leukotriene C4 synthase gene (LTC4S) was higher than in patients who tolerated aspirin well. Objectives: To study the pattern of aspirin-induced urticaria (AIU) in two families, with special interest on the polymorphisms of LTC4S (AA, AC, CC) and the glutathione Stransferase M1 and P1 genes (GSTM1 and GSTP1). Methods: Of 74 patients with CIU and a history of aspirin hypersensitivity studied by us, two patients (probands) gave a family history of aspirin intolerance. Oral challenge tests with aspirin were carried out in members of these families. Genomic DNA samples were obtained from peripheral blood to study the polymorphisms of LTC4S, GSTM1 and GSTP1. Results: In family 1 the aspirin challenge test confirmed AIU in three of five (60%) individuals, but in family 2 only in two of seven (29%). In both families, the variant genotypes of LTC4S (AC or CC) were present in the parents, but only one of them had CIU. In family 1, with both parents healthy, the three children had AIU; in two it was associated with variant LTC4S genotype. In family 2, urticaria following aspirin ingestion was present only with variant LTC4S genotype. In patients of both families with positive aspirin challenge test, deletion of the GSTM1 gene was present. Conclusions: AIU aggregates in families inheriting the LTC4S-444C allele. Segregation of aspirin sensitivity in these families does not follow a clear Mendelian pattern. A common deletion of GSTM1, one of several enzymes involved in conjugation of a wide range of electrophilic substances with glutathione, was present in all individuals ascertained to have AIU.展开更多
文摘伴或不伴眼部异常的脑小血管病1型(Brain small vessel disease 1 with or without ocular anomalies,BSVD1)是由COL4A1基因变异导致的IV型胶原蛋白异常相关的疾病[1-2]。该基因变异导致的表型谱非常广泛,包括脑白质病、脑穿通畸形、脑裂畸形、脑出血、脑钙化、遗传性血管病伴肾病。
文摘Background: We have reported that in patients with chronic idiopathic urticaria (CIU) who reacted adversely to aspirin, the frequency of the -444C allele of the leukotriene C4 synthase gene (LTC4S) was higher than in patients who tolerated aspirin well. Objectives: To study the pattern of aspirin-induced urticaria (AIU) in two families, with special interest on the polymorphisms of LTC4S (AA, AC, CC) and the glutathione Stransferase M1 and P1 genes (GSTM1 and GSTP1). Methods: Of 74 patients with CIU and a history of aspirin hypersensitivity studied by us, two patients (probands) gave a family history of aspirin intolerance. Oral challenge tests with aspirin were carried out in members of these families. Genomic DNA samples were obtained from peripheral blood to study the polymorphisms of LTC4S, GSTM1 and GSTP1. Results: In family 1 the aspirin challenge test confirmed AIU in three of five (60%) individuals, but in family 2 only in two of seven (29%). In both families, the variant genotypes of LTC4S (AC or CC) were present in the parents, but only one of them had CIU. In family 1, with both parents healthy, the three children had AIU; in two it was associated with variant LTC4S genotype. In family 2, urticaria following aspirin ingestion was present only with variant LTC4S genotype. In patients of both families with positive aspirin challenge test, deletion of the GSTM1 gene was present. Conclusions: AIU aggregates in families inheriting the LTC4S-444C allele. Segregation of aspirin sensitivity in these families does not follow a clear Mendelian pattern. A common deletion of GSTM1, one of several enzymes involved in conjugation of a wide range of electrophilic substances with glutathione, was present in all individuals ascertained to have AIU.
