ArticleRespirology case reports2021
A family history of Hermansky-Pudlak syndrome complicated with pulmonary fibrosis: a case series and review.
Article in Respirology case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
- A family history of Hermansky-Pudlak syndrome complicated with pulmonary fibrosis: a case series and review.Respirology case reports · 2021Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Hernansky-Pudlak syndrome (HPS) is a rare genetic disorder. We report three cases from a family of 12 siblings, with six albinos, of whom four and the father had pulmonary fibrosis (PF). Case 1 was admitted to our hospital due to increasing dyspnoea and history of gynaecological bleeding. Pulmonary function test showed a restrictive airflow pattern, high-resolution computed tomographic scan demonstrated interstitial lung disease (ILD), and platelet aggregation was compromised with a reduced number of platelet dense bodies. The family history revealed endogamy and 11 members with suspected HPS. One of the albino sisters and the father had passed away with unidentified ILD, an albino brother died 14 years earlier, his autopsy had shown collections of ceroid pigments in the lungs, consistent with HPS, and another brother was followed up at our hospital for ILD and compromised platelet aggregation. This family probably has the highest number of members affected by HPS in Spain.
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