Deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax: a case report

Journal of Medical Case Reports

Case Report

Alain Poncelet¹  Etienne Sokal²  Xavier Stephenne²  Isabelle Scheers²  Alice Ramboux²  Philippe Clapuyt³  Raymond Reding⁴ 

[1] Division of Cardiothoracic Surgery, Department of Surgery, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium;Division of Paediatric Gastroenterology and Hepatology, Department of Paediatrics, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium;Division of Paediatric Radiology, Department of Radiology, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium;Division of Paediatric Surgery, Department of Surgery, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium;

关键词: Deoxyguanosine kinase deficiency;    Mitochondrial DNA depletion syndrome;    Mitochondriopathy;    Amyotrophy;    Recurrent spontaneous pneumothorax;    Case report;   

DOI  :  10.1186/s13256-023-04151-1

 received in 2022-09-26, accepted in 2023-08-30,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundDeoxyguanosine kinase deficiency is mainly manifested by hepatic and neurological damage, hence it belongs to the hepatocerebral form of mitochondrial deoxyribonucleic acid depletion syndrome. The association between deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax has not currently been reported.Case presentationA 12-year-old Russian boy with deoxyguanosine kinase deficiency, a recipient of a liver transplant with amyotrophy secondary to his mitochondriopathy, presented with recurrent spontaneous bilateral pneumothorax refractory to drainage and surgery.ConclusionTo our knowledge, this is the first documented case of deoxyguanosine kinase deficiency associated with recurrent spontaneous pneumothorax, which could be considered a late complication of deoxyguanosine kinase deficiency. At this point, this is only an association and further studies and research need to be performed to help confirm the pathogenesis of this association.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

【 图 表 】

Fig. 2