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

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...