ArticleRadiology case reports2025
Hereditary pulmonary alveolar proteinosis in a 5-year-old child: Diagnostic insights and therapeutic approach.
Article in Radiology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary pulmonary alveolar proteinosis (hPAP) is a rare disorder caused by mutations in the CSF2RA or CSF2RB genes, leading to impaired surfactant clearance by alveolar macrophages and subsequent respiratory dysfunction. A 5-year-old female with a 2-year history of poor weight gain, fatigue, and intermittent fever was evaluated. Clinical evaluation revealed hypoxemia, while high-resolution computed tomography (HRCT) of the chest showed the characteristic "crazy-paving" pattern suggestive of PAP. Bronchoalveolar lavage (BAL) yielded milky fluid with periodic acid-Schiff (PAS)-positive material, and genetic testing confirmed a homozygous mutation in the CSF2RA gene, consistent with hPAP. The patient underwent therapeutic whole lung lavage (WLL), resulting in significant clinical improvement. This case underscores the challenges of diagnosing pediatric hPAP and the value of integrating imaging, pathology, and genetic testing. While WLL remains the mainstay of treatment, further research is needed to develop targeted therapies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.