Pleuroparenchymal fibroelastosis in a monogenic mitochondrial DNA depletion syndrome.
BACKGROUND Pleuroparenchymal fibroelastosis (PPFE) is a rare, most often idiopathic fibrotic lung disease with poor prognosis, mainly affecting adults. Biallelic pathogenic variants in the deoxyguanosine kinase gene (DGUOK) cause a mitochondrial DNA (mtDNA) depletion syndrome, predominantly affecting infants with sever...
S. von Hardenberg, Pia Maier, Leonard Christian et al.
· European Respiratory Journal · 0 citations