Ma Tiangang, Ren Jin, Yin Jinzhi, Ma Zhongsen
Department of Respiratory Medicine, Second Hospital of Jilin University, Changchun, 130041, Jilin Province, China.
Cell Biochem Biophys. 2014 Sep;70(1):565-72. doi: 10.1007/s12013-014-9957-9.
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterized by the presence of innumerable calcium phosphate microliths in the alveoli. Clinical-radiological dissociation is an important hallmark of this disease. Most PAM patients are asymptomatic and pulmonary tissue changes are discovered incidentally. PAM is pathologically attributable to the formation and aggregation of calcium phosphate microliths in the alveoli after mutations in the SLC34A2 gene (the type IIb sodium-phosphate cotransporter gene) coding NaPi-IIb. In the clinical work, we discovered an inbred pedigree with PAM, which include four PAM siblings. We performed a sequence analysis of the SLC34A2 gene in all members of this PAM pedigree and found that a homozygous mutation c.575C > A (p.T192 K) in exon 6 was involved. To the best of our knowledge, this study was the first to discover nucleotide mutations in exon 6 in Asians.
肺泡微石症（PAM）是一种罕见的常染色体隐性疾病，其特征是肺泡内存在无数磷酸钙微结石。临床-放射学分离是该疾病的一个重要标志。大多数PAM患者无症状，肺部组织变化是偶然发现的。PAM在病理上归因于编码NaPi-IIb的SLC34A2基因（IIb型钠-磷酸盐共转运蛋白基因）发生突变后，肺泡内磷酸钙微结石的形成和聚集。在临床工作中，我们发现了一个患有PAM的近亲家系，其中包括四名患有PAM的兄弟姐妹。我们对这个PAM家系的所有成员进行了SLC34A2基因序列分析，发现第6外显子存在纯合突变c.575C>A（p.T192K）。据我们所知，本研究首次在亚洲人中发现第6外显子的核苷酸突变。
