CASE REPORT article
Front. Pediatr.
Sec. Pediatric Pulmonology
This article is part of the Research TopicCase Reports in Pulmonary Medicine 2025View all 34 articles
Novel Compound Heterozygous Mutations in SLC34A2 Gene: A Case of Pulmonary Alveolar Microlithiasis in a child
Provisionally accepted
- 1The Second Clinical Medical College, Guangzhou University of Chinese Medicine, Guangzhou, China
- 2Department of Pediatrics, The Second Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou, China
- 3Guangdong Provincial Key Laboratory of Research and Development in Traditional Chinese Medicine, Guangzhou, China
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Pulmonary alveolar microlithiasis (PAM) , a rare disorder caused by SLC34A2 mutations , demonstrates clinical-radiological discordance. Pediatric cases face heightened diagnostic challenges; nonspecific presentations often result in misattribution to recurrent pneumonia or delayed diagnosis, especially in children ≤5 years. We present a case of a 3-year-old girl hospitalized for persistent cough (11-day duration) and intermittent fever (9-day history). Her recurrent productive cough had been misattributed to recurrent pneumonia in prior healthcare encounters. Diagnostic imaging revealed extensive calcifications in the left lower lobe on chest CT, accompanied by small clustered onion-like calcifications in bronchoalveolar lavage fluid(BALF). Sputum culture identified Haemophilus influenzae infection. Genetic analysis revealed novel compound heterozygous variants in SLC34A2: c.524-1G>C (IVS5) inherited maternally and c.910A>T (EX8) of paternal origin. The patient was diagnosed with PAM complicated by Haemophilus influenzae pneumonia. These compound heterozygous SLC34A2 variants represent previously unreported pathogenic mutations. We conclude that heightened attention should be directed toward detecting calcifications on mediastinal and bone windows during pediatric imaging examinations. Genetic analysis plays a pivotal role in diagnosing rare childhood disorders and may emerge as the primary diagnostic modality for PAM in pediatric populations.
Keywords: children2, Compound heterozygous mutations3, missed diagnosis5, Pulmonary alveolar microlithiasis1, SLC34A24
Received: 29 Oct 2025; Accepted: 03 Feb 2026.
Copyright: © 2026 Zhou, Xu, Yang and Chen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Jinghua Yang
Yiting Chen
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