Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review
Abstract:Key Clinical MessageWe 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 co… Show more
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