Deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax: a case report.
Amyotrophy
Case report
Deoxyguanosine kinase deficiency
Mitochondrial DNA depletion syndrome
Mitochondriopathy
Recurrent spontaneous pneumothorax
Journal
Journal of medical case reports
ISSN: 1752-1947
Titre abrégé: J Med Case Rep
Pays: England
ID NLM: 101293382
Informations de publication
Date de publication:
30 Sep 2023
30 Sep 2023
Historique:
received:
26
09
2022
accepted:
30
08
2023
medline:
4
10
2023
pubmed:
30
9
2023
entrez:
29
9
2023
Statut:
epublish
Résumé
Deoxyguanosine 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. A 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. To 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.
Sections du résumé
BACKGROUND
BACKGROUND
Deoxyguanosine 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 PRESENTATION
METHODS
A 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.
CONCLUSION
CONCLUSIONS
To 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.
Identifiants
pubmed: 37775787
doi: 10.1186/s13256-023-04151-1
pii: 10.1186/s13256-023-04151-1
pmc: PMC10543300
doi:
Substances chimiques
Phosphotransferases (Alcohol Group Acceptor)
EC 2.7.1.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
413Informations de copyright
© 2023. BioMed Central Ltd., part of Springer Nature.
Références
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