Winter J, Essmann S, Kidszun A, Aslanidis C, Griese M, Poplawska K, Bartsch M, Schmitz G, Mildenberger E
Neonatology, Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz, Germany.
Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg, Germany.
Klin Padiatr. 2014 Apr;226(2):53-8. doi: 10.1055/s-0033-1363687. Epub 2014 Mar 14.
Autosomal recessive ABCA3 (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 the ABCA3 gene 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 with ABCA3 gene mutation. In our patient with homozygous ABCA3 gene 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 with ABCA3 gene mutations is needed. Randomized, prospective evaluation of the different therapeutic approaches in a specific registry may improve prognosis and treatment of affected individuals.
常染色体隐性ABCA3（ATP结合盒转运蛋白A3）基因突变与新生儿呼吸窘迫及小儿间质性肺病相关。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、症状及治疗方法很重要。
一名足月儿患有进行性呼吸功能不全，于4.8月龄时死亡。该女孩患间质性肺病。系统性排除了感染以及肺部的结构和功能障碍。鉴定出ABCA3基因存在纯合的c.4681C>T（Arg 1561 Stop）突变。对该疾病的病理生理学及治疗选择进行了文献综述。使用皮质类固醇、大环内酯类药物及羟氯喹的治疗方法未改善临床病程。
针对ABCA3基因突变的青少年患者，慢性间质性肺病的治疗策略在临床病程较轻的病例中已成功应用。在我们这位患有ABCA3基因纯合突变的患者中，这些策略无效。肺移植仍是一种治疗选择，但由于供体器官短缺以及相关的发病率和死亡率，很少可行。
需要积累更多治疗ABCA3基因突变新生儿的经验。在特定登记处对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及治疗效果。
