Neonatal Respiratory Insufficiency Caused by an (Homozygous) ABCA3-Stop Mutation: a Systematic Evaluation of Therapeutic Options
Neonatal Respiratory Insufficiency Caused by an (Homozygous) ABCA3-Stop Mutation: a Systematic Evaluation of Therapeutic Options
复制标题
由（纯合）ABCA3-Stop 突变引起的新生儿呼吸功能不全：治疗方案的系统评估
DOI：
10.1055/s-0033-1363687
复制
发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Mildenberger E
中科院分区：
文献类型：
--
作者：
Winter J;Essmann S;Kidszun A;Aslanidis C;Griese M;Poplawska K;Bartsch M;Schmitz G;Mildenberger E
常染色体隐性ABCA3（ATP结合盒蛋白A3）基因突变与新生儿呼吸窘迫和小儿间质性肺病有关。该疾病的临床病程取决于潜在的突变。因此，了解该疾病的病程、症状和治疗非常重要。一名足月新生儿患有进行性呼吸功能不全，导致 4.8 个月大时死亡。这个女孩患上了间质性肺病。系统地排除了感染以及肺部的结构和功能障碍。鉴定出ABCA3基因的纯合c.4681C>T（Arg 1561 Stop）突变。对该疾病的病理生理学和治疗方案进行了文献综述。皮质类固醇、大环内酯类和羟氯喹的治疗方法并没有改善临床病程。慢性间质性肺疾病的治疗策略已成功应用于具有轻度临床病程的ABCA3基因突变青少年患者。在我们的ABCA3基因纯合突变患者中，它们没有效果。肺移植仍然是一种治疗选择，但由于供体器官短缺以及相关的发病率和死亡率，它很少可行。需要更多治疗ABCA3基因突变新生儿的经验。对特定登记处的不同治疗方法进行随机、前瞻性评估可能会改善受影响个体的预后和治疗。
Autosomal recessiveABCA3(ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease. The clinical course of the disease depends on the underlying mutations. Therefore, knowledge of course, symptoms and treatment of the disease is important.A term newborn suffered from progressive respiratory insufficiency, which led to death at the age of 4.8 months. The girl developed interstitial lung disease. Infections as well as structural and functional disorders of the lung were systematically excluded. A homozygous c.4681C>T (Arg 1561 Stop) mutation of theABCA3gene was identified. A literature review of the pathophysiology and treatment options of the disease was done. Therapeutic approaches with corticosteroids, macrolide, and hydroxychloroquine did not improve the clinical course.Therapeutic strategies for chronic interstitial lung disease have been used successfully in cases of a mild clinical course in juvenile patients withABCA3gene mutation. In our patient with homozygousABCA3gene mutation, they were not effective. Lung transplantation remains as a therapeutic option, but because of donor organ shortage and associated morbidity and mortality it is rarely feasible.More experience in the treatment of newborns withABCA3gene mutations is needed. Randomized, prospective evaluation of the different therapeutic approaches in a specific registry may improve prognosis and treatment of affected individuals.
登录
查看更多内容
大环内酯类药物可通过 ABCA3 突变显着改善表面活性剂缺乏症。
DOI：
--
发表时间：
2009
期刊：
Asian Test Symposium
影响因子：
--
作者：
A. Clément;H. Corvol;R. Epaud;D. Feldman;B. Fauroux
通讯作者：
B. Fauroux
异源 ABCA3 突变与呼吸窘迫的非致命性演变相关。
DOI：
--
发表时间：
2007
期刊：
Eur. J. Pediatr. 167
影响因子：
--
作者：
Yokota;T.;Matsumura;Y.;Ban;N.;Matsubayashi;T.;Inagaki;N.
通讯作者：
N.
影响因子：
3.1
作者：
Abou Taam, Rola;Jaubert, Francis;de Blic, Jacques
通讯作者：
de Blic, Jacques
影响因子：
5.8
作者：
Dishop, Megan K.
通讯作者：
Dishop, Megan K.
影响因子：
2.9
作者：
Ciantelli, M.;Ghirri, P.;Carrera, P.
通讯作者：
Carrera, P.