Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

被引：181

作者：

Parikh, Sumit ^{[1
]}

Goldstein, Amy ^{[2
]}

Karaa, Amel ^{[3
]}

Koenig, Mary Kay ^{[4
]}

Anselm, Irina ^{[5
]}

Brunel-Guitton, Catherine ^{[6
]}

Christodoulou, John ^{[7
,8
]}

Cohen, Bruce H. ^{[9
]}

Dimmock, David ^{[10
]}

Enns, Gregory M. ^{[11
]}

Falk, Marni J. ^{[12
,13
]}

Feigenbaum, Annette ^{[14
,15
,16
,17
]}

Frye, Richard E. ^{[18
]}

Ganesh, Jaya ^{[19
]}

Griesemer, David ^{[20
]}

Haas, Richard ^{[21
,22
,23
]}

Horvath, Rita ^{[24
]}

Korson, Mark ^{[25
]}

Kruer, Michael C. ^{[26
]}

Mancuso, Michelangelo ^{[27
]}

McCormack, Shana ^{[28
]}

Raboisson, Marie Josee ^{[29
]}

Reimschisel, Tyler ^{[30
]}

Salvarinova, Ramona ^{[31
]}

Saneto, Russell P. ^{[32
]}

Scaglia, Fernando ^{[33
,34
]}

Shoffner, John

Stacpoole, Peter W. ^{[35
]}

Sue, Carolyn M. ^{[36
,37
]}

Tarnopolsky, Mark ^{[38
]}

Van Karnebeek, Clara ^{[39
,40
]}

Wolfe, Lynne A. ^{[41
]}

Cunningham, Zarazuela Zolkipli ^{[42
]}

Rahman, Shamima ^{[43
]}

Chinnery, Patrick F. ^{[44
,45
]}

机构：

[1] Cleveland Clin, Childrens Hosp, Ctr Child Neurol, Cleveland, OH 44106 USA

[2] Childrens Hosp Pittsburgh, Div Child Neurol, Pittsburgh, PA 15213 USA

[3] Massachusetts Gen Hosp, Div Genet, Boston, MA 02114 USA

[4] Univ Texas Med Sch Houston, Div Child & Adolescent Neurol, Houston, TX USA

[5] Boston Childrens Hosp, Dept Neurol, Boston, MA USA

[6] Univ Montreal, Dept Pediat, Montreal, PQ, Canada

[7] Murdoch Childrens Res Inst, Neurodev Genom Res Grp, Melbourne, Vic, Australia

[8] Univ Melbourne, Melbourne Med Sch, Dept Paediat, Melbourne, Vic, Australia

[9] Childrens Hosp Med Ctr Akron, Neurodev Sci Ctr, Akron, OH USA

[10] Rady Childrens Inst Genom Med, San Diego, CA USA

[11] Stanford Univ, Lucile Packard Childrens Hosp, Dept Pediat, Div Med Genet, Palo Alto, CA 94304 USA

[12] Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA

[13] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA

[14] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada

[15] Univ Toronto, Toronto, ON, Canada

[16] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA

[17] Rady Childrens Hosp, San Diego, CA USA

[18] Univ Arkansas Med Sci, Dept Pediat, Little Rock, AR 72205 USA

[19] Rowan Univ, Cooper Med Sch, Dept Pediat, Div Genet, Camden, NJ USA

[20] Levine Childrens Hosp, Div Neurol, Charlotte, NC USA

[21] Univ Calif San Diego, Dept Neurosci, La Jolla, CA 92093 USA

[22] Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA

[23] Rady Childrens Hosp, Dept Neurosci, San Diego, CA USA

[24] Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England

[25] Genet Metab Ctr Educ, Salem, MA USA

[26] Univ Arizona, Coll Med, Dept Pediat Neurol, Phoenix, AZ USA

[27] Univ Pisa, Neurol Clin, Dept Expt & Clin Med, Pisa, Italy

[28] Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA

[29] CHU St Justine, Dept Cardiol, Montreal, PQ, Canada

[30] Vanderbilt Univ, Med Ctr, Dept Pediat, Nashville, TN 37232 USA

[31] BC Childrens Hosp, Div Biochem Dis, Vancouver, BC, Canada

[32] Univ Washington, Seattle Childrens Hosp, Dept Neurol, Seattle, WA 98195 USA

[33] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[34] Texas Childrens Hosp, Houston, TX 77030 USA

[35] Univ Florida, Coll Med, Dept Med, Gainesville, FL USA

[36] Royal North Shore Hosp, Dept Neurol, St Leonards, NSW, Australia

[37] Royal North Shore Hosp, Kolling Inst, St Leonards, NSW, Australia

[38] McMaster Univ, Div Neurol, Hamilton, ON, Canada

[39] Univ Amsterdam, Acad Med Ctr, Dept Pediat, Amsterdam, Netherlands

[40] Univ British Columbia, Ctr Mol Med, Dept Pediat, Vancouver, BC, Canada

[41] NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA

[42] Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA

[43] UCL Great Ormond St Inst Child Hlth, Mitochondrial Res Grp, London, England

[44] Univ Cambridge, Dept Clin Neurosci, Cambridge, England

[45] Univ Cambridge, MRC Mitochondrial Biol Unit, Cambridge, England

来源：

GENETICS IN MEDICINE | 2017年 / 19卷 / 12期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

care guidelines; consensus criteria; Delphi method; mitochondrial disease; treatment; STROKE-LIKE EPISODES; CHRONIC INTESTINAL PSEUDOOBSTRUCTION; CAUSE HEARING-LOSS; LACTIC-ACIDOSIS; OPHTHALMOLOGICAL FINDINGS; RESPIRATORY-FAILURE; MOVEMENT-DISORDERS; CLINICAL SPECTRUM; PRACTICE PATTERNS; DNA;

D O I：

10.1038/gim.2017.107

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease. This statement is intended for physicians who are engaged in the diagnosis and management of these patients. Working group members were appointed by the Mitochondrial Medicine Society. The panel included members with several different areas of expertise. The panel members utilized surveys and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve. Consensus-based recommendations are provided for the routine care and management of patients with primary genetic mitochondrial disease.

引用

页码：1 / 18

页数：18

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