Evidence map›Paper›PMID 37775787›Full record

ArticleJournal of medical case reports2023

Deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax: a case report.

Alice Ramboux, Alain Poncelet, Philippe Clapuyt, Isabelle Scheers, Etienne Sokal, Raymond Reding, Xavier Stephenne

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 76% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 1 institution in 1 country.

Alice RambouxDivision of Paediatric Gastroenterology and Hepatology, Department of Paediatrics, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium. alice.ramboux@uclouvain.be.
Alain PonceletDivision of Cardiothoracic Surgery, Department of Surgery, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
Philippe ClapuytDivision of Paediatric Radiology, Department of Radiology, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
Isabelle ScheersDivision of Paediatric Gastroenterology and Hepatology, Department of Paediatrics, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
Etienne SokalDivision of Paediatric Gastroenterology and Hepatology, Department of Paediatrics, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
Raymond RedingDivision of Paediatric Surgery, Department of Surgery, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
Xavier StephenneDivision of Paediatric Gastroenterology and Hepatology, Department of Paediatrics, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
Cliniques Universitaires Saint-Luc · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 PRESENTATION: 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.

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.

Indexed as

Mitochondrial DiseasesPneumothoraxChildHumansLiverMalePhosphotransferases (Alcohol Group Acceptor)Phosphotransferases (Alcohol Group Acceptor)AmyotrophyCase reportDeoxyguanosine kinase deficiencyMitochondrial DNA depletion syndromeMitochondriopathyRecurrent spontaneous pneumothorax

Identifiers

PMID37775787
PMCPMC10543300
OpenAlexW4387159809

What OpenQuestion holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.