Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders

[摘要] ExtractThe telomere biology disorder (TBD) dyskeratosis congenita (DC) is a multisystem inherited bone marrow failure syndrome and cancer predisposition syndrome caused by germline mutations in telomere biology genes (DKC1; TINF2; TERC; TERT; NOP10; NHP2; CTC1; WRAP53; ACD; RTEL1 and PARN). The classic triad of reticular skin pigmentation; dysplastic nails and oral leukoplakia is diagnostic of DC [1; 2]. Leukocyte telomere lengths less than the first percentile for age measured by flow cytometry with fluorescence in situ hybridisation are consistent with DC in the presence of other phenotypic features [3]. Pulmonary fibrosis; a known complication of DC/TBD; occurs in xe2x89xa520% of patients [1]. Pulmonary arteriovenous malformations (PAVMs) in DC have been previously described in case reports or small case series in the context of hepatopulmonary syndrome (HPS) [4xe2x80x939]. Presenting features of PAVMs may overlap with those of pulmonary fibrosis; including dyspnoea; orthopnoea; platypnoea; cyanosis and digital clubbing. HPS is described as pulmonary vascular dilatation due to liver disease of any cause (cirrhotic/noncirrhotic with/without portal hypertension); leading to deficient arterial oxygenation [10].

[学科分类] 呼吸医学