ArticleOrphanet journal of rare diseases2018
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 54 citations in OpenAlex.
- Advances in our understanding of distal progenitors in idiopathic pulmonary fibrosis: implications for novel therapeutics.The European respiratory journal · 2026Review
- The Impact of Genetics on Pediatric Interstitial Lung Diseases: A Narrative Literature Review and Clinical Implications.Biomedicines · 2026Review
- Genetic Determinants of Progressive Pulmonary Fibrosis: A Comprehensive Review.International journal of molecular sciences · 2025Review
- Hermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia.The American journal of case reports · 2025Article
- Emergence of inflammatory fibroblasts with aging in Hermansky-Pudlak syndrome associated pulmonary fibrosis.Communications biology · 2025Article
- Impairment of Renal Function in Hermansky-Pudlak Syndrome.American journal of nephrology · 2025Article
- A 29-Year-Old Man With Type 2 Hermansky-Pudlak Syndrome and Wolff-Parkinson-White Syndrome: The Hypothesis of a Potential Link Between These Two Conditions.Case reports in medicine · 2025Article
- Dysregulated alveolar epithelial cell progenitor function and identity in Hermansky-Pudlak syndrome.JCI insight · 2024Article
- Pulmonary fibrosis may begin in infancy: from childhood to adult interstitial lung disease.Thorax · 2024Review
- Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.International journal of molecular sciences · 2024Review
- Rare genetic interstitial lung diseases: a pictorial essay.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Clinical and research innovations in childhood interstitial lung disease (chILD).Pediatric pulmonology · 2024Article
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- Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis.Respiratory medicine case reports · 2024Article
- Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective.Diagnostics (Basel, Switzerland) · 2022Review
- Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.Cells · 2022Review
- Insights into the Pathogenesis of Pulmonary Fibrosis from Genetic Diseases.American journal of respiratory cell and molecular biology · 2022Review
- Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.Frontiers in pediatrics · 2022Article
- AP-3-dependent targeting of flippase ATP8A1 to lamellar bodies suppresses activation of YAP in alveolar epithelial type 2 cells.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundHermansky-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.
methodsSix 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.
resultsPulmonary 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.
conclusionsHPS-2 is characterized by a rapidly fibrosing lung disease during early childhood. Effective treatments are required.
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