A Pedigree with Pulmonary Alveolar Microlithiasis: A Clinical Case Report and Literature Review

• Published in: Cell biochemistry and biophysics Vol. 70; no. 1; pp. 565 - 572
• Main Authors: Ma, Tiangang, Ren, Jin, Yin, Jinzhi, Ma, Zhongsen
• Format: Journal Article
• Language: English
• Published: Boston Springer US 01.09.2014; Springer Nature B.V
• Subjects: Adult; Base Sequence; Biochemistry; Biological and Medical Physics; Biomedical and Life Sciences; Biophysics; Biotechnology; Calcinosis - diagnostic imaging; Calcinosis - genetics; Calcium phosphates; Cell Biology; Exons - genetics; Female; Genetic Diseases, Inborn - diagnostic imaging; Genetic Diseases, Inborn - genetics; Humans; Life Sciences; Literature reviews; Lung Diseases - diagnostic imaging; Lung Diseases - genetics; Male; Middle Aged; Mutation; Original Paper; Pedigree; Pharmacology/Toxicology; Siblings; Sodium-Phosphate Cotransporter Proteins, Type IIb - genetics; Tomography, X-Ray Computed; Pulmonary diseases; SLC34A2 gene; Pulmonary alveolar microlithiasis
• ISSN: 1085-9195; 1559-0283
• 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.