Journal article

Publication year: 2018

Journal: Orphanet Journal of Rare Diseases

Volume number: 13

ISSN: 1750-1172

Open access status: Gold

DOI Link: https://doi.org/10.1186/s13023-018-0780-z

Publisher: BioMed Central

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.

Harvard Citation style: Hengst, M., Naehrlich, L., Mahavadi, P., Grosse-Onnebrink, J., Terheggen-Lagro, S., Skanke, L., et al. (2018) Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood, Orphanet Journal of Rare Diseases, 13, Article 42. https://doi.org/10.1186/s13023-018-0780-z

APA Citation style: Hengst, M., Naehrlich, L., Mahavadi, P., Grosse-Onnebrink, J., Terheggen-Lagro, S., Skanke, L., Schuch, L., Brasch, F., Guenther, A., Reu, S., Ley-Zaporozhan, J., & Griese, M. (2018). Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood. Orphanet Journal of Rare Diseases. 13, Article 42. https://doi.org/10.1186/s13023-018-0780-z