| Title |
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, March 2018
|
| DOI | 10.1186/s13023-018-0780-z |
| Pubmed ID | |
| 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 |
| Abstract |
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. 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. 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. HPS-2 is characterized by a rapidly fibrosing lung disease during early childhood. Effective treatments are required. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 27 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 3 | 11% |
| Student > Ph. D. Student | 3 | 11% |
| Professor > Associate Professor | 3 | 11% |
| Student > Master | 3 | 11% |
| Lecturer > Senior Lecturer | 1 | 4% |
| Other | 3 | 11% |
| Unknown | 11 | 41% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 26% |
| Biochemistry, Genetics and Molecular Biology | 4 | 15% |
| Agricultural and Biological Sciences | 1 | 4% |
| Immunology and Microbiology | 1 | 4% |
| Psychology | 1 | 4% |
| Other | 0 | 0% |
| Unknown | 13 | 48% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 10 April 2018.
All research outputs
#17,937,475
of 23,031,582 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,038
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Outputs of similar age
#239,780
of 330,033 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#29
of 37 outputs
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