Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood

Orphanet Journal of Rare Diseases

Poornima Mahavadi¹  Andreas Guenther¹  Julia Ley-Zaporozhan²  Suzanne Terheggen-Lagro³  Frank Brasch⁴  Meike Hengst⁵  Matthias Griese⁵  Luise A. Schuch⁵  Simone Reu⁶  Lars Høsøien Skanke⁷  Lutz Naehrlich⁸  Joerg Grosse-Onnebrink⁹ 

[1] Department of Internal Medicine, Justus-Liebig University, German Center for Lung Research;Department of Radiology, Ludwig-Maximilians University;Erasmuc MC, University Medical Center Rotterdam;Klinikum Bielefeld Mitte, Institut für Pathologie;Ludwig-Maximilians University, Dr von Haunersches Kinderspital, German Center for Lung Research (DZL);Ludwig-Maximilians University, Institute of Pathology;St.Olav’s University Hospital;University Hospital Gießen and Marburg, German Center for Lung Research;University Hospital Münster;

关键词: Hermansky-Pudlak syndrome type 2;    Childhood;    Pulmonary fibrosis;    Tachydyspnea;    Pulmonary phenotype;   

DOI  :  10.1186/s13023-018-0780-z

来源: DOAJ

【 摘 要 】

Abstract 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.

【 授权许可】

Unknown