prikaz prve stranice dokumenta Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
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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 Više autora...

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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, br. 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, br. 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, i sur.. Deoxyguanosine kinase deficiency: natural history and liver transplant outcome. Brain Communications [Internet]. 06.05.2024. [pristupljeno 16.03.2025.];6(3). doi: 10.1093/braincomms/fcae160

E. Manzoni, et al., "Deoxyguanosine kinase deficiency: natural history and liver transplant outcome", Brain Communications, vol. 6, br. 3, Svibanj 2024. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:872293. [Citirano: 16.03.2025.]

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Naslov (engleski)Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
AutorEleonora Manzoni
AutorSara Carli
AutorPauline Gaignard
AutorLea Dewi Schlieben
AutorMichio Hirano
AutorDario Ronchi
AutorEmmanuel Gonzales
AutorMasaru Shimura
AutorKei Murayama
AutorYasushi Okazaki
AutorIvo Barić
AutorDanijela Petković Ramadža
AutorDaniela Karall
AutorJohannes Mayr
AutorDiego Martinelli
AutorChiara La Morgia
AutorGuido Primiano
AutorRené Santer
AutorSerenella Servidei
AutorCéline Bris
AutorAline Cano
AutorFrancesca Furlan
AutorSerena Gasperini
AutorNolwenn Laborde
AutorCostanza Lamperti
AutorDominic Lenz
AutorMichelangelo Mancuso
AutorVincenzo Montano
AutorFrancesca Menni
AutorOlimpia Musumeci
AutorVictoria Nesbitt
AutorElena Procopio
AutorCécile Rouzier
AutorChristian Staufner
AutorJan-Willem Taanman
AutorGalit Tal
AutorChiara Ticci
AutorDuccio Maria Cordelli
AutorValerio Carelli
AutorVincent Procaccio
AutorHolger Prokisch
AutorCaterina Garone
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PEDIJATRIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Sažetak (engleski)
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... Više 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. Sakrij dio sažetka
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaBrain Communications
Brojčani podacivol. 6, br. 3, fcae160
e-ISSN2632-1297
DOIhttps://doi.org/10.1093/braincomms/fcae160
URN:NBNurn:nbn:hr:105:872293
Datum objave publikacije2024-05-06
URL dokumentahttps://academic.oup.com/braincomms/article/doi/10.1093/braincomms/fcae160/7665607
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2025-02-18 08:14:23
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