背景:小儿肺动脉高压(PH)是一种严重且罕见的疾病,通常源于基因突变。歌舞uki综合征(KS)是一种染色体异常疾病,其起源是赖氨酸甲基转移酶2D(KMT2D)的突变。最近的证据表明KMT2D突变与小儿肺部疾病有关。然而,在极少数病例中报道了PH的临床病程与KMT2D突变之间的关系。因此,在本文中,为了更好地理解小儿PH和KMT2D突变之间的相关性,我们介绍了1例病例,并回顾了以往的文献.
方法:一名3岁女孩因严重咳嗽被转移到我们中心,呼吸急促,疲劳和发烧。体格检查显示面部畸形和生长迟缓。超声心动图显示小房间隔缺损(ASD),右心导管显示肺血管压力和阻力显著增加。基因测试表明她有KMT2D基因突变。患者最终被诊断为KS。她被给予靶向药物以降低肺血管压力,但效果并不令人满意。
结论:KS可并发多器官畸形和功能障碍。随着下一代测序的进展,报道了越来越多的与KMT2D突变相关的新表型.本文提出了一个大胆的假设,也就是说,PH可能是与KMT2D突变相关的新表型。建议应将KS和PH相互区分,以避免临床实践中的延误诊断和治疗。没有特定的KS治疗药物。遗传性PH患儿的预后通常较差,肺移植可以提高他们的存活率。
Pediatric pulmonary hypertension (PH) is a serious and rare disease that is often derived from genetic mutations. Kabuki syndrome (KS) is a chromosomal abnormality disease that has its origin in the mutation of lysine methyltransferase 2D(KMT2D). Recent evidence has shown that KMT2D mutations are associated with pediatric pulmonary disorders. However, the relationship between the clinical courses of PH and the KMT2D mutation is reported in extremely few cases. Therefore, in this paper, a
case was presented and previous literature was reviewed for better understanding of the correlation between pediatric PH and KMT2D mutations.
A 3-year-old girl was transferred to our center for severe cough, shortness of breath, fatigue and fever. Physical examination revealed facial deformities and growth retardation. Echocardiography showed a small atrial septal defect (ASD), and right heart catheterization indicated a significant increase in pulmonary vascular pressure and resistance. The genetic test suggested that she had a KMT2D gene mutation. The patient was finally diagnosed with KS. She was given targeted drugs to reduce pulmonary vascular pressure, but the effect was unsatisfactory.
KS can be complicated with multiple organ malformations and dysfunction. With the progress of next generation sequencing, an increasing number of new phenotypes related to KMT2D mutations have been reported. A bold hypothesis is proposed in this article, that is, PH may be a new phenotype associated with KMT2D mutations. It is suggested that KS and PH should be differentiated from each other to avoid delayed diagnosis and treatment in clinical practice. There is no specific drug for KS treatment. The prognosis of children with inherited PH is usually poor, and lung transplantation may increase their survival rates.