دورية أكاديمية
أعرض في EDS

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

التفاصيل البيبلوغرافية
العنوان: Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
المؤلفون: Manzoni E; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy., Carli S; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy., Gaignard P; Department of Biochemistry, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Paris 94275, France., Schlieben LD; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, 80333  Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg 80333, Germany., Hirano M; H. Houston Merritt Neuromuscular Research Center, Department of Neurology, Columbia University Irving Medical Center, New York, NY 10033, USA., Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy., Gonzales E; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Paris 94270, France., Shimura M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba 260-0842, Japan., Murayama K; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba 260-0842, Japan.; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan., Okazaki Y; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan., Barić I; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia., Petkovic Ramadza D; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia., Karall D; Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Mayr J; University Children's Hospital, Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome 00165, Italy., La Morgia C; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy.; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna 40124, Italy., Primiano G; Dipartimento di Neuroscienze, Organi di Senso e Torace -Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome 00136, Italy.; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome 00168, Italy., Santer R; Department of Pediatrics, University Medical Center Eppendorf, Hamburg 20246, Germany., Servidei S; Dipartimento di Neuroscienze, Organi di Senso e Torace -Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome 00136, Italy.; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome 00168, Italy., Bris C; University Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT, Angers F-49000, France., Cano A; Centre de référence des maladies héréditaires du métabolisme, CHU la Timone Enfants, Marseille 13005, France., Furlan F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan 20122, Italy., Gasperini S; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy., Laborde N; Unité de Gastroentérologie, Hépatologie, Nutrition et Maladies Héréditaires du Métabolisme, Hôpital des Enfants, CHU de Toulouse, Toulouse 31300, France., Lamperti C; Division of Medical Genetics and Neurogenetics, Fondazione IRCCS Neurological Institute 'C. Besta', Milan 20133, Italy., Lenz D; Division of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP, Pisa 56126, Italy., Montano V; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP, Pisa 56126, Italy., Menni F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan 20122, Italy., Musumeci O; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina 98125, Italy., Nesbitt V; Department of Paediatrics, Medical Sciences Division, Oxford University, Oxford OX3 9DU, UK., Procopio E; Metabolic Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Rouzier C; Centre de référence des Maladies Mitochondriales, Service de Génétique Médicale, CHU de Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice 06000, France., Staufner C; Division of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Taanman JW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Tal G; Metabolic Clinic, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel., Ticci C; Metabolic Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Cordelli DM; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy., Carelli V; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy.; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna 40124, Italy., Procaccio V; University Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT, Angers F-49000, France., Prokisch H; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, 80333  Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg 80333, Germany., Garone C; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy.
المصدر: Brain communications [Brain Commun] 2024 May 06; Vol. 6 (3), pp. fcae160. Date of Electronic Publication: 2024 May 06 (Print Publication: 2024).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: [Oxford] : Oxford University Press, [2019]-
مستخلص: 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.
Competing Interests: The authors report no competing interests.
(© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.)
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فهرسة مساهمة: Keywords: DGUOK; deoxyguanosine kinase; liver transplant; mitochondrial DNA; nucleosides
تواريخ الأحداث: Date Created: 20240517 Latest Revision: 20240518
رمز التحديث: 20240518
مُعرف محوري في PubMed: PMC11098040
DOI: 10.1093/braincomms/fcae160
PMID: 38756539
قاعدة البيانات: MEDLINE
الوصف
تدمد:2632-1297
DOI:10.1093/braincomms/fcae160