ArticleClinical case reports2023
Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review.
Article in Clinical case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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
2 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.
- Differences in genetic characteristics between Chinese and non-Chinese patients with pulmonary alveolar microlithiasis-case series and a systematic review.Therapeutic advances in respiratory diseasePooled it
- Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review.Clinical case reports · 2023Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We reported a case of a 7-year-old boy with pulmonary alveolar microlithiasis (PAM) and detected two novel compound heterozygous mutations of solute carrier family 34 member 2 (SLC34A2), EXON:2-6 duplication and c.1218 (EXON:11) C > A (p. Phe406Leu). His symptoms were nonspecific. Chest computed tomography (CCT) showed bronchiectasis, a mosaic feature, and extensive calcifications in both lungs. In addition, bronchoscopy showed bronchitis obliterans which has rarely been reported as a complication in the literature. This case aimed to explore the mechanism of PAM and emphasize the role of gene analysis in diagnosing rare pediatric diseases. Finally, we undertook a review of the current literature containing SLC34A2 gene mutations to update the gene mutation spectrum of PAM.
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