Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood
复制标题
DOI：
10.1186/s13023-018-0780-z
复制
发表时间：
2018-03-27
影响因子：
3.7
通讯作者：
Griese, Matthias
中科院分区：
文献类型：
--
作者：
Hengst, Meike;Naehrlich, Lutz;Griese, Matthias
背景：Hermansky-Pudlak综合征(HPS)是一种遗传性多系统疾病，伴有眼皮肤白化病，可能由至少10个独立基因中的一个突变引起。HPS-2亚型的特点是存在中性粒细胞减少症，对其在儿童中的肺部表型缺乏了解。方法：在2009-2017年间向CHILD-EU登记的6名经基因验证的HPS-2儿童；系统收集数据并对影像研究进行盲法评分。结果：包括呼吸困难、咳嗽、需要氧气和棍棒在内的肺部症状在确诊前3.3年就开始出现，平均年龄8.83岁(2-15岁)。所有患儿均有反复肺部感染，3例自发性气胸，4例脊柱侧弯。肺部主诉的频率随着时间的推移而增加。在所有受试者中，主要的放射学类型是磨玻璃样阴影，在最初和后续的计算机断层扫描(CT)中，网状阴影和牵引性支气管扩张症迅速增加。3例患者新发现蜂窝状和囊状结构。一半的患者接受了肺活检诊断；组织学类型为细胞性非特异性间质性肺炎、常见的间质性肺炎样和脱屑间质性肺炎。结论：HPS-2是一种儿童早期快速纤维化的肺部疾病。需要有效的治疗。
Background: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce.Methods: Six children with genetically proven HPS-2 presented to the chILD-EU register between 2009 and 2017; the data were collected systematically and imaging studies were scored blinded.Results: Pulmonary symptoms including dyspnea, coughing, need for oxygen, and clubbing started 3.3 years before the diagnosis was made at the mean age of 8.83 years (range 2-15). All children had recurrent pulmonary infections, 3 had a spontaneous pneumothorax, and 4 developed scoliosis. The frequency of pulmonary complaints increased over time. The leading radiographic pattern was ground-glass opacities with a rapid increase in reticular pattern and traction bronchiectasis between initial and follow-up Computer tomography (CT) in all subjects. Honeycombing and cysts were newly detectable in 3 patients. Half of the patients received a lung biopsy for diagnosis; histological patterns were cellular non-specific interstitial pneumonia, usual interstitial pneumonia-like, and desquamative interstitial pneumonia.Conclusions: HPS-2 is characterized by a rapidly fibrosing lung disease during early childhood. Effective treatments are required.