In generalized arterial calcification of infancy(OMIM no.208000),calcificat ion of the media and proliferation of the intima lead to arterial stenoses.Most affected patients present with untreatable arterial hypertens...In generalized arterial calcification of infancy(OMIM no.208000),calcificat ion of the media and proliferation of the intima lead to arterial stenoses.Most affected patients present with untreatable arterial hypertension and die within the first months of life.The disease has recently been linked to mutations in ENPP1.We report two siblings with prolonged survival,both of whom carry the co mpound heterozygous ENPP1 mutations C.913C > A and c.1164+2T > A.In both sibli ngs,spontaneous regression of arterial calcifications occurred,and antihyperte nsive treatment could be tapered off gradually.In some patients,the natural co urse of GACI may be more favourable than previously assumed.展开更多
例1 女,1个月,因“发现心脏杂音1个月,拒奶、气促伴皮肤花斑半个月”就诊于我院.患儿系第1胎第1产,出生胎龄35＋4周,纠正胎龄40＋6周,因胎膜早破,经剖宫产臀位娩出.出生体重2.4 kg,出生情况可,1 min Apgar评分8分,5 min Apgar评分10分....例1 女,1个月,因“发现心脏杂音1个月,拒奶、气促伴皮肤花斑半个月”就诊于我院.患儿系第1胎第1产,出生胎龄35＋4周,纠正胎龄40＋6周,因胎膜早破,经剖宫产臀位娩出.出生体重2.4 kg,出生情况可,1 min Apgar评分8分,5 min Apgar评分10分.入院前半个月出现拒奶、气促伴皮肤发花,当地医院诊断为“新生儿心力衰竭”,经强心、利尿等处理后,症状缓解不明显,为进一步诊治入我院.母亲曾患妊娠糖尿病,父母非近亲结婚,家族中无类似病史.展开更多
文摘In generalized arterial calcification of infancy(OMIM no.208000),calcificat ion of the media and proliferation of the intima lead to arterial stenoses.Most affected patients present with untreatable arterial hypertension and die within the first months of life.The disease has recently been linked to mutations in ENPP1.We report two siblings with prolonged survival,both of whom carry the co mpound heterozygous ENPP1 mutations C.913C > A and c.1164+2T > A.In both sibli ngs,spontaneous regression of arterial calcifications occurred,and antihyperte nsive treatment could be tapered off gradually.In some patients,the natural co urse of GACI may be more favourable than previously assumed.
文摘例1 女,1个月,因“发现心脏杂音1个月,拒奶、气促伴皮肤花斑半个月”就诊于我院.患儿系第1胎第1产,出生胎龄35＋4周,纠正胎龄40＋6周,因胎膜早破,经剖宫产臀位娩出.出生体重2.4 kg,出生情况可,1 min Apgar评分8分,5 min Apgar评分10分.入院前半个月出现拒奶、气促伴皮肤发花,当地医院诊断为“新生儿心力衰竭”,经强心、利尿等处理后,症状缓解不明显,为进一步诊治入我院.母亲曾患妊娠糖尿病,父母非近亲结婚,家族中无类似病史.
