Objective: Mortality in FASD has not been well studied. In this paper we review published reports of mortality in FASD. Method: We searched using Pub Med for all years in all languages for reports of all-cause mortali...Objective: Mortality in FASD has not been well studied. In this paper we review published reports of mortality in FASD. Method: We searched using Pub Med for all years in all languages for reports of all-cause mortality associated with any FASD. Results: We located 26 papers reporting on 57 deaths. Cause of death was reported for 49/57 cases (86%). The two most prevalent potential causes of death were malformations of the heart (37 of 49 cases, 75.5%) which varied from atrial septal defect or patent ductus arteriosus to tetralogy of Fallot, hypoplastic left heart, aortic arch interruption, etc. and brain malformations(25 of 49, 51%) including microcephaly, hydrocephalus, porencephaly, agenesis/absence of the corpus callosum and semilobar holoprosencephaly. In several cases potential causal findings overlapped. The three most frequent other causes of death were sepsis (7 cases, 14.3%), kidney malformations (7 cases, 14.3%), and cancer (4 cases, 8.2%). Over half the deaths (30/55, 54.5%) occurred in the first year of life. Discussion: We found that congenital heart disease was the most common cause of death in people with FASD. This may be due to an ascertainment bias since many of the published studies were focused on congenital heart disease in FASD. We conclude that FASD is frequently undetected in mortality events and could be a common finding in infant, child, adolescent and adult mortality.展开更多
目的探讨1例NFIA基因突变致脑畸形伴或不伴尿道缺陷疾病(brain malformations with or without urinary tract defects,BRMUTD,PMID:25714559)患者的临床特点和基因突变特征。方法收集湖南省儿童医院神经外科收治的1例NFIA基因突变致BRM...目的探讨1例NFIA基因突变致脑畸形伴或不伴尿道缺陷疾病(brain malformations with or without urinary tract defects,BRMUTD,PMID:25714559)患者的临床特点和基因突变特征。方法收集湖南省儿童医院神经外科收治的1例NFIA基因突变致BRMUTD患者的临床资料,应用二代测序和Sanger测序技术对其进行基因突变分析,并通过文献检索,对有关NFIA基因突变及染色体1p32-p31缺失、临床表现为脑畸形伴或不伴尿道缺陷疾病相关文献共27例病例进行复习。结果患者为女性,表现有胼胝体偏小、脑室扩大、智力发育落后、颅缝早闭、小脑扁桃体下疝(又称Chiari畸形)、肝功能异常等多系统问题;基因检测结果显示患者携带NFIA基因c.1051C>T(p.Arg351*)的杂合突变,该突变是新发突变,且在gnomAD数据库与ExAC数据库中未见报道;生物学信息分析软件分析预测提示为致病突变。通过检索文献数据库,联合本中心1例患者,共纳入27例脑畸形伴或不伴尿道缺陷疾病患者的临床特点与基因突变特征,其中男女比例为15∶12,其中胼胝体异常(24/27)、脑室扩大(23/27)、巨头畸形(22/27)、狭颅症(5/27)、发育迟滞(25/27)、Chiari畸形(7/27)、泌尿系统疾病(10/27)较为常见。结论NFIA基因突变新的致病位点c.1051C>T(p.Arg351*),丰富了NFIA的突变谱,通过分析脑畸形伴或不伴尿道缺陷疾病患者临床表现分析,加深了对脑畸形伴或不伴尿道缺陷疾病的认识。展开更多
文摘Objective: Mortality in FASD has not been well studied. In this paper we review published reports of mortality in FASD. Method: We searched using Pub Med for all years in all languages for reports of all-cause mortality associated with any FASD. Results: We located 26 papers reporting on 57 deaths. Cause of death was reported for 49/57 cases (86%). The two most prevalent potential causes of death were malformations of the heart (37 of 49 cases, 75.5%) which varied from atrial septal defect or patent ductus arteriosus to tetralogy of Fallot, hypoplastic left heart, aortic arch interruption, etc. and brain malformations(25 of 49, 51%) including microcephaly, hydrocephalus, porencephaly, agenesis/absence of the corpus callosum and semilobar holoprosencephaly. In several cases potential causal findings overlapped. The three most frequent other causes of death were sepsis (7 cases, 14.3%), kidney malformations (7 cases, 14.3%), and cancer (4 cases, 8.2%). Over half the deaths (30/55, 54.5%) occurred in the first year of life. Discussion: We found that congenital heart disease was the most common cause of death in people with FASD. This may be due to an ascertainment bias since many of the published studies were focused on congenital heart disease in FASD. We conclude that FASD is frequently undetected in mortality events and could be a common finding in infant, child, adolescent and adult mortality.
文摘目的探讨1例NFIA基因突变致脑畸形伴或不伴尿道缺陷疾病(brain malformations with or without urinary tract defects,BRMUTD,PMID:25714559)患者的临床特点和基因突变特征。方法收集湖南省儿童医院神经外科收治的1例NFIA基因突变致BRMUTD患者的临床资料,应用二代测序和Sanger测序技术对其进行基因突变分析,并通过文献检索,对有关NFIA基因突变及染色体1p32-p31缺失、临床表现为脑畸形伴或不伴尿道缺陷疾病相关文献共27例病例进行复习。结果患者为女性,表现有胼胝体偏小、脑室扩大、智力发育落后、颅缝早闭、小脑扁桃体下疝(又称Chiari畸形)、肝功能异常等多系统问题;基因检测结果显示患者携带NFIA基因c.1051C>T(p.Arg351*)的杂合突变,该突变是新发突变,且在gnomAD数据库与ExAC数据库中未见报道;生物学信息分析软件分析预测提示为致病突变。通过检索文献数据库,联合本中心1例患者,共纳入27例脑畸形伴或不伴尿道缺陷疾病患者的临床特点与基因突变特征,其中男女比例为15∶12,其中胼胝体异常(24/27)、脑室扩大(23/27)、巨头畸形(22/27)、狭颅症(5/27)、发育迟滞(25/27)、Chiari畸形(7/27)、泌尿系统疾病(10/27)较为常见。结论NFIA基因突变新的致病位点c.1051C>T(p.Arg351*),丰富了NFIA的突变谱,通过分析脑畸形伴或不伴尿道缺陷疾病患者临床表现分析,加深了对脑畸形伴或不伴尿道缺陷疾病的认识。
