Pulmonary Alveolar Microlithiasis: A novel patient and brief review of the literature
Ariana de Oliveira Mekonnen, Nicolaus Schwerk, Katharina Schütz, Leonie Schramm, Anna Dreissig, Simon Grewendorf, Cinja Sukdolak, Christian Dopfer, Bernd Auber, Sandra von Hardenberg, Christine Happle · Klinische Pädiatrie · 2022 · Heft 05 · S. 317-319
Bibliografische Angaben
Zusammenfassung
Introduction Pulmonary Alveolar Microlithiasis (PAM) is a rare hereditary lung disease caused by biallelic pathogenic variants (pV) in the solute family 34 member 2 gene (SLC34A2; Izumi et al., Am J Respir Crit Care Med 2007; 175: 263–268). pVs in this sodium phosphate co-transporter gene lead to accumulation of calcium phosphate crystals within pulmonary alveoli. More than 1000 cases of PAM were thus far reported, with high variance in disease courses (Stamatis et al., Ann Thorac Surg 1993; 56: 972–975). Frequently, asymptomatic cases are observed, and often times slow disease progression until respiratory insu…
