prikaz prve stranice dokumenta Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
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Scientific paper - Original scientific paper
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
Brain Communications, 6 (2024), 3; fcae160. https://doi.org/10.1093/braincomms/fcae160
Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Barić, Ivo; Petković Ramadža, Danijela; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, René; Servidei, Serenella; Bris, Céline; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cécile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina More authors...

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Manzoni, E., Carli, S., Gaignard, P., Schlieben, L. D., Hirano, M., Ronchi, D. ... Garone, C. (2024). Deoxyguanosine kinase deficiency: natural history and liver transplant outcome. Brain Communications, 6. (3). doi: 10.1093/braincomms/fcae160

Manzoni, Eleonora, et al. "Deoxyguanosine kinase deficiency: natural history and liver transplant outcome." Brain Communications, vol. 6, no. 3, 2024. https://doi.org/10.1093/braincomms/fcae160

Manzoni, Eleonora, Sara Carli, Pauline Gaignard, Lea Dewi Schlieben, Michio Hirano, Dario Ronchi, Emmanuel Gonzales, et al. "Deoxyguanosine kinase deficiency: natural history and liver transplant outcome." Brain Communications 6, no. 3 (2024). https://doi.org/10.1093/braincomms/fcae160

Manzoni, E., et al. (2024) 'Deoxyguanosine kinase deficiency: natural history and liver transplant outcome', Brain Communications, 6(3). doi: 10.1093/braincomms/fcae160

Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, and sur.. Deoxyguanosine kinase deficiency: natural history and liver transplant outcome. Brain Communications [Internet]. 2024 May 06 [cited 2025 March 15];6(3). doi: 10.1093/braincomms/fcae160

E. Manzoni, et al., "Deoxyguanosine kinase deficiency: natural history and liver transplant outcome", Brain Communications, vol. 6, no. 3, May 2024. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:872293. [Accessed: 15 March 2025]

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Metadata
Title (english)Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
AuthorEleonora Manzoni
AuthorSara Carli
AuthorPauline Gaignard
AuthorLea Dewi Schlieben
AuthorMichio Hirano
AuthorDario Ronchi
AuthorEmmanuel Gonzales
AuthorMasaru Shimura
AuthorKei Murayama
AuthorYasushi Okazaki
AuthorIvo Barić
AuthorDanijela Petković Ramadža
AuthorDaniela Karall
AuthorJohannes Mayr
AuthorDiego Martinelli
AuthorChiara La Morgia
AuthorGuido Primiano
AuthorRené Santer
AuthorSerenella Servidei
AuthorCéline Bris
AuthorAline Cano
AuthorFrancesca Furlan
AuthorSerena Gasperini
AuthorNolwenn Laborde
AuthorCostanza Lamperti
AuthorDominic Lenz
AuthorMichelangelo Mancuso
AuthorVincenzo Montano
AuthorFrancesca Menni
AuthorOlimpia Musumeci
AuthorVictoria Nesbitt
AuthorElena Procopio
AuthorCécile Rouzier
AuthorChristian Staufner
AuthorJan-Willem Taanman
AuthorGalit Tal
AuthorChiara Ticci
AuthorDuccio Maria Cordelli
AuthorValerio Carelli
AuthorVincent Procaccio
AuthorHolger Prokisch
AuthorCaterina Garone
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract (english)
Autosomal recessive pathogenetic variants in the DGUOK gene cause deficiency of deoxyguanosine kinase activity and mitochondrial deoxynucleotides pool imbalance, consequently, leading to quantitative and/or qualitative impairment of mitochondrial DNA synthesis. Typically, patients present early-onset liver failure with or without neurological involvement and a clinical course rapidly progressing to death. This is an international multicentre study aiming to provide a retrospective natural history of deoxyguanosine kinase deficient patients. A systematic literature review from January 2001 to June 2023 was conducted. Physicians of research centres or clinicians all around the world caring for previously reported patients were contacted to provide followup information or additional clinical, biochemical, histological/histochemical, and molecular genetics data for unreported cases with a confirmed molecular diagnosis of deoxyguanosine kinase deficiency. A cohort of 202 genetically confirmed patients, 36 unreported, and 166 from a systematic literature review, were analyzed. Patients had a neonatal onset (≤ 1 month) in 55.7% of cases, infantile (>1 month and ≤ 1 year) in 32.3%, pediatric (>1 year and ≤18 years) in 2.5% and adult (>18 years) in 9.5%. Kaplan-Meier analysis showed statistically different survival rates (P < 0.0001) among the four age groups with the highest mortality for neonatal onset. Based on the clinical phenotype, we defined four different clinical subtypes: hepatocerebral (58.8%), isolated hepatopathy (21.9%), hepatomyoencephalopathy (9.6%), and isolated myopathy (9.6%). Muscle involvement was predominant in adult-onset cases whereas liver dysfunction causes morbidity and mortality in early-onset patients with a median survival of less than 1 year. No genotype–phenotype correlation was identified. Liver transplant significantly modified the survival rate in 26 treated patients when compared with untreated. Only six patients had additional mild neurological signs after liver transplant. In conclusion, deoxyguanosine kinase deficiency is a disease spectrum with a prevalent liver and brain tissue specificity in neonatal and infantile-onset patients and muscle tissue specificity in adult-onset cases. Our study provides clinical, molecular genetics and biochemical data for early diagnosis, clinical trial planning and immediate intervention with liver transplant and/or nucleoside supplementation.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleBrain Communications
Numberingvol. 6, no. 3, fcae160
e-ISSN2632-1297
DOIhttps://doi.org/10.1093/braincomms/fcae160
URN:NBNurn:nbn:hr:105:872293
Publication2024-05-06
Document URLhttps://academic.oup.com/braincomms/article/doi/10.1093/braincomms/fcae160/7665607
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2025-02-18 08:14:23