目的总结罕见病酪氨酸血症Ⅲ型(Tyrosinemia Type Ⅲ)的临床资料,为临床医生对该病的早期诊治提供帮助。方法回顾分析1例氨酸血症Ⅲ型患儿的临床特点、基因变异情况,并进行文献综述。结果患儿,男,6月,主因“出生足底血筛查串联提示酪氨...目的总结罕见病酪氨酸血症Ⅲ型(Tyrosinemia Type Ⅲ)的临床资料,为临床医生对该病的早期诊治提供帮助。方法回顾分析1例氨酸血症Ⅲ型患儿的临床特点、基因变异情况,并进行文献综述。结果患儿,男,6月,主因“出生足底血筛查串联提示酪氨酸增高”到我院遗传代谢科门诊就诊。门诊检查发现患儿除串联提示酪氨酸明显增高及尿有机酸提示4-羟基苯乙酸、4-羟基苯乳酸、4-羟基苯丙酮酸显著升高外,临床情况良好,无肝大、黄疸、贫血及出血倾向,无皮肤及眼部病变,无神经精神症状及肌张力改变,无喂养不耐受等,基因检测提示HPD基因复合杂合突变,诊断酪氨酸血症Ⅲ型(HPD基因变异),因患儿疾病发现早,干预及时,目前患儿治疗效果良好,发育正常。结论随着串联质谱技术被纳入新生儿遗传代谢病筛查,越来越多遗传代谢病的患儿在发病早期即可以得到诊断与干预,从而有效避免患儿发生代谢危象,改善疾病预后,并有助于延长患儿寿命。展开更多
发育性和癫痫性脑病93(Developmental and epileptic encephalopathy 93,DEE93)(MIM:618012)是一种常染色体显性遗传神经系统疾病,主要特点为精神运动发育迟缓、早发难治性癫痫和智力低下等,且与ATP6V1A基因变异有关^([1])。DEE93临床...发育性和癫痫性脑病93(Developmental and epileptic encephalopathy 93,DEE93)(MIM:618012)是一种常染色体显性遗传神经系统疾病,主要特点为精神运动发育迟缓、早发难治性癫痫和智力低下等,且与ATP6V1A基因变异有关^([1])。DEE93临床表现差异大,病情轻重不一,重者可因快速进展的早期致命性脑病而死亡,轻者仅表现为轻度至中度智力障碍,伴或不伴癫痫发作^([2-3])。ATP6V1A基因(MIM#607027)染色体位置为3q13.3,包含15个外显子,编码617个氨基酸,是组成ATP酶(V-ATPase)的一个亚基,参与介导真核细胞内的质子运输过程和细胞器的酸化。本文报告了1例全外显子测序发现ATP6V1A基因杂合致病性变异c.937G>C:p.Ala313Pro的婴儿,描述了其临床表现并复习相关文献内容,扩展了ATP6V1A基因突变相关DEE93的临床特征和遗传谱,为该病的诊断、治疗和遗传咨询提供参考。展开更多
Objective:To investigate the birth defect condition in Haidian district of Beijing city,61 272 live-born infants who were delivered in Haidian Maternal and Child Health Hospital from 2003 to the March of 2009 are anal...Objective:To investigate the birth defect condition in Haidian district of Beijing city,61 272 live-born infants who were delivered in Haidian Maternal and Child Health Hospital from 2003 to the March of 2009 are analyzed. Methods:Data was collected from the hospital's medical records and from the birth defect surveillance. Results:Among the newborns studied,1 076 were found having birth defect (17.56‰). The most common birth defects are congenital heart defect,followed by dysmorphosis of external ear,polydactyly,hypospadia,cleft lip and palate. In addition,three birth defects that are not included in the birth defect surveillance list were enorchia,renal agenesis and giant hemangioma. The birth defect rates of preterm and small for gestational age infants are significantly higher than it of the term infants. The birth defect patterns for these two types of abnormal infants are distinct. Conclusion:We have determined the pattern of birth defects in Beijing,which may help in policy-making regarding the prevention and intervention of birth defects.展开更多
文摘目的总结罕见病酪氨酸血症Ⅲ型(Tyrosinemia Type Ⅲ)的临床资料,为临床医生对该病的早期诊治提供帮助。方法回顾分析1例氨酸血症Ⅲ型患儿的临床特点、基因变异情况,并进行文献综述。结果患儿,男,6月,主因“出生足底血筛查串联提示酪氨酸增高”到我院遗传代谢科门诊就诊。门诊检查发现患儿除串联提示酪氨酸明显增高及尿有机酸提示4-羟基苯乙酸、4-羟基苯乳酸、4-羟基苯丙酮酸显著升高外,临床情况良好,无肝大、黄疸、贫血及出血倾向,无皮肤及眼部病变,无神经精神症状及肌张力改变,无喂养不耐受等,基因检测提示HPD基因复合杂合突变,诊断酪氨酸血症Ⅲ型(HPD基因变异),因患儿疾病发现早,干预及时,目前患儿治疗效果良好,发育正常。结论随着串联质谱技术被纳入新生儿遗传代谢病筛查,越来越多遗传代谢病的患儿在发病早期即可以得到诊断与干预,从而有效避免患儿发生代谢危象,改善疾病预后,并有助于延长患儿寿命。
文摘发育性和癫痫性脑病93(Developmental and epileptic encephalopathy 93,DEE93)(MIM:618012)是一种常染色体显性遗传神经系统疾病,主要特点为精神运动发育迟缓、早发难治性癫痫和智力低下等,且与ATP6V1A基因变异有关^([1])。DEE93临床表现差异大,病情轻重不一,重者可因快速进展的早期致命性脑病而死亡,轻者仅表现为轻度至中度智力障碍,伴或不伴癫痫发作^([2-3])。ATP6V1A基因(MIM#607027)染色体位置为3q13.3,包含15个外显子,编码617个氨基酸,是组成ATP酶(V-ATPase)的一个亚基,参与介导真核细胞内的质子运输过程和细胞器的酸化。本文报告了1例全外显子测序发现ATP6V1A基因杂合致病性变异c.937G>C:p.Ala313Pro的婴儿,描述了其临床表现并复习相关文献内容,扩展了ATP6V1A基因突变相关DEE93的临床特征和遗传谱,为该病的诊断、治疗和遗传咨询提供参考。
文摘Objective:To investigate the birth defect condition in Haidian district of Beijing city,61 272 live-born infants who were delivered in Haidian Maternal and Child Health Hospital from 2003 to the March of 2009 are analyzed. Methods:Data was collected from the hospital's medical records and from the birth defect surveillance. Results:Among the newborns studied,1 076 were found having birth defect (17.56‰). The most common birth defects are congenital heart defect,followed by dysmorphosis of external ear,polydactyly,hypospadia,cleft lip and palate. In addition,three birth defects that are not included in the birth defect surveillance list were enorchia,renal agenesis and giant hemangioma. The birth defect rates of preterm and small for gestational age infants are significantly higher than it of the term infants. The birth defect patterns for these two types of abnormal infants are distinct. Conclusion:We have determined the pattern of birth defects in Beijing,which may help in policy-making regarding the prevention and intervention of birth defects.
