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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2018

Open Access 01-12-2018 | Research

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

Authors: Meike Hengst, Lutz Naehrlich, Poornima Mahavadi, Joerg Grosse-Onnebrink, Suzanne Terheggen-Lagro, Lars Høsøien Skanke, Luise A. Schuch, Frank Brasch, Andreas Guenther, Simone Reu, Julia Ley-Zaporozhan, Matthias Griese

Published in: Orphanet Journal of Rare Diseases | Issue 1/2018

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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.
Appendix
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Metadata
Title
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood
Authors
Meike Hengst
Lutz Naehrlich
Poornima Mahavadi
Joerg Grosse-Onnebrink
Suzanne Terheggen-Lagro
Lars Høsøien Skanke
Luise A. Schuch
Frank Brasch
Andreas Guenther
Simone Reu
Julia Ley-Zaporozhan
Matthias Griese
Publication date
01-12-2018
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2018
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-018-0780-z

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