Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Biomarkers Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Humans Mitochondrial Diseases / diagnosis Phenotype
clinical genetics diagnosis evidence based practice metabolic disorders

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
03 2019
Historique:
received: 12 10 2018
revised: 11 12 2018
accepted: 23 12 2018
pubmed: 27 1 2019
medline: 15 5 2020
entrez: 27 1 2019
Statut: ppublish

Résumé

Primary genetic mitochondrial diseases are often difficult to diagnose, and the term 'possible' mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disease. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders. In instances when a genetic diagnosis cannot be confirmed, a diagnosis of 'possible' mitochondrial disease may result in harm to patients and their families, creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care. A categorisation of

Identifiants

DOI: 10.1136/jmedgenet-2018-105800 PMID: 30683676
pubmed: 30683676
pii: jmedgenet-2018-105800
doi: 10.1136/jmedgenet-2018-105800
doi:

Substances chimiques

Biomarkers 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

123-130

Subventions

Organisme : Medical Research Council
ID : MR/N025431/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N010035/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1000848
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N025431/2
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 203105/Z/16/Z
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 101876/Z/13/Z
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 109915/Z/15/Z
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 212219/Z/18/Z
Pays : United Kingdom

Informations de copyright

© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Sumit Parikh (S)

Mitochondrial Medicine Center, Neurologic Institute, Cleveland Clinic, Cleveland, Ohio, USA.
ORCID: 0000-0003-3712-8959

Amel Karaa (A)

Genetics Unit, Mitochondrial Disease Program, Massachusetts General Hospital, Boston, Massachusetts, USA.

Amy Goldstein (A)

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Enrico Silvio Bertini (ES)

Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.

Patrick F Chinnery (PF)

MRC Mitochondrial Biology Unit and Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

John Christodoulou (J)

Neurodevelopmental Genomics Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria, Australia.

Bruce H Cohen (BH)

Department of Pediatrics and Rebecca D. Considine Research Institute, Akron Children's Hospital, Akron, Ohio, USA.
Northeast Ohio Medical University, Rootstown, Ohio, USA.

Ryan L Davis (RL)

Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia.
Department of Neurogenetics, Koling Institute, University of Sydney and Royal North Shore Hospital, Sydney, New South Wales, Australia.

Marni J Falk (MJ)

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Carl Fratter (C)

NHS Specialized Services for Rare Mitochondrial Disorders of Adults and Children UK, Oxford, UK.
Oxford Medical Genetics Laboratories, Oxford University, Oxford, UK.

Rita Horvath (R)

Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

Mary Kay Koenig (MK)

Department of Pediatrics, Mitochondrial Center, University of Texas McGovern Medical School, Houston, Texas, USA.

Michaelangelo Mancuso (M)

Department of Experimental and Clinical Medicine, Neurological Institute, University of Pisa, Pisa, Italy.

Shana McCormack (S)

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Elizabeth M McCormick (EM)

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Robert McFarland (R)

Institute of Neurosciences, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle, UK.

Victoria Nesbitt (V)

Institute of Neurosciences, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle, UK.
NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals, Oxford, UK.

Manuel Schiff (M)

Reference Center for Inborn Errors of Metabolism, Robert-Debré University Hospital, APHP, UMR1141, PROTECT, INSERM, Université Paris-Diderot, Paris, France.
ORCID: 0000-0001-8272-232X

Hannah Steele (H)

Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Department of Neurology, Sunderland Royal Hospital, Sunderland, UK.

Silvia Stockler (S)

Department of Pediatrics, Division of Biochemical Diseases, University of British Columbia, Vancouver, Canada.

Carolyn Sue (C)

Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia.
Department of Neurogenetics, Koling Institute, University of Sydney and Royal North Shore Hospital, Sydney, New South Wales, Australia.
Department of Neurology, Royal North Shore Hospital, Sydney, NewSouth Wales, Australia.

Mark Tarnopolsky (M)

Department of Pediatrics, Neuromuscular and Neurometabolic Clinic, McMaster University, Hamilton, Ontario, Canada.

David R Thorburn (DR)

Royal Children's Hospital, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

Jerry Vockley (J)

Department of Pediatrics, University of Pittsburgh School of Medicine; Center for Rare Disease Therapy, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Shamima Rahman (S)

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.
Metabolic Unit, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

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Classifications MeSH

questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Diagnosis of 'possible' mitochondrial disease:...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Diagnosis of 'possible' mitochondrial disease:...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Diagnosis of 'possible' mitochondrial disease:...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Diagnosis of 'possible' mitochondrial disease:...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Diagnosis of 'possible' mitochondrial disease:...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Maladies mitochondriales › Diagnosis of 'possible' mitochondrial disease:...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Diagnosis of 'possible' mitochondrial disease:...