Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

被引:4
|
作者
Sen, Kuntal [1 ]
Burrage, Lindsay C. [2 ,3 ]
Chapman, Kimberly A. [4 ,5 ]
Ginevic, Ilona [6 ]
Mazariegos, George V. [7 ,8 ]
Graham, Brett H. [9 ]
机构
[1] Childrens Natl Hosp, Ctr Neurosci & Behav Med, Div Neurogenet & Neurodev Pediat, Washington, DC 20010 USA
[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA
[3] Texas Childrens Hosp, Houston, TX USA
[4] Childrens Natl Hosp, Rare Dis Inst, Washington, DC USA
[5] George Washington Univ, Dept Pediat, Sch Med & Hlth Sci, Washington, DC USA
[6] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY USA
[7] UPMC Childrens Hosp Pittsburgh, Hillman Ctr Pediat Transplantat, Pittsburgh, PA USA
[8] Univ Pittsburgh, Dept Surg, Pittsburgh, PA USA
[9] Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN USA
[10] Amer Coll Med Genet & Genom, Bethesda, MD USA
关键词
Kidney transplant; Liver transplant; Metabolic decompensation; Methylmalonic acidemia; Propionic acidemia; PEDIATRIC LIVER-TRANSPLANTATION; RENAL-TRANSPLANTATION; KIDNEY-TRANSPLANTATION; LATE COMPLICATIONS; PATIENT; MANAGEMENT; CHILDREN; ONSET; CARDIOMYOPATHY; PROGNOSIS;
D O I
10.1016/j.gim.2022.11.005
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
This statement is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome. This statement should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinicians should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted, and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures. Where individual authors are listed, the views expressed may not reflect those of authors' employers or affiliated institutions. Requests for permissions must be directed to the American College of Medical Genetics and Genomics, as rights holder.
引用
收藏
页数:10
相关论文
共 50 条
  • [21] ACMG STATEMENT br Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
    Best, Robert G.
    Khushf, George
    Rabin-Havt, Sara Schonfeld
    Clayton, Ellen Wright
    Grebe, Theresa A.
    Hagenkord, Jill
    Topper, Scott
    Fivecoat, Jaime
    Chen, Margaret
    Grody, Wayne W.
    GENETICS IN MEDICINE, 2022, 24 (03) : 509 - 511
  • [22] Points to consider in the reevaluation and reanalysis of genomic test results: A statement of the American College of Medical Genetics and Genomics (ACMG) (vol 21, pg 1267, 2019)
    Reddi, Honey, V
    Avenarius, Matthew R.
    Bean, Lora J. H.
    Best, Hunter
    Guha, Saurav
    Kang, Benjamin E.
    Scharfe, Curt
    Seifert, Bryce A.
    Wakeling, Erin
    GENETICS IN MEDICINE, 2024, 26 (05)
  • [23] DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)
    Murray, Michael F.
    Giovanni, Monica A.
    Doyle, Debra L.
    Harrison, Steven M.
    Lyon, Elaine
    Manickam, Kandamurugu
    Monaghan, Kristin G.
    Rasmussen, Sonja A.
    Scheuner, Maren T.
    Palomaki, Glenn E.
    Watson, Michael S.
    GENETICS IN MEDICINE, 2021, 23 (06) : 989 - 995
  • [24] Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)
    David, Karen L.
    Best, Robert G.
    Brenman, Leslie Manace
    Bush, Lynn
    Deignan, Joshua L.
    Flannery, David
    Hoffman, Jodi D.
    Holm, Ingrid
    Miller, David T.
    O'Leary, James
    Pyeritz, Reed E.
    GENETICS IN MEDICINE, 2019, 21 (04) : 769 - 771
  • [25] The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)
    Monaghan, Kristin G.
    Leach, Natalia T.
    Pekarek, Dawn
    Prasad, Priya
    Rose, Nancy C.
    GENETICS IN MEDICINE, 2020, 22 (04) : 675 - 680
  • [26] Correspondence on " Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)" " by Grebe et al
    Widen, Erik
    Lello, Louis
    Eccles, Jennifer
    Marin, Diego
    Treff, Nathan R.
    GENETICS IN MEDICINE, 2024, 26 (08)
  • [27] Stewardship of Patient Genomic Data: A Policy Statement of the American College of Medical Genetics and Genomics (ACMG)
    Best, Robert G.
    Khushf, George
    Rabin-Havt, Sara Schonfeld
    Clayton, Ellen Wright
    Grebe, Theresa A.
    Hagenkord, Jill
    Topper, Scott
    Fivecoat, Jaime
    Chen, Margaret
    Grody, Wayne W.
    OBSTETRICAL & GYNECOLOGICAL SURVEY, 2022, 77 (09) : 517 - 519
  • [28] Correspondence on "Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)" by Grebe et al Reply
    Grebe, Theresa A.
    Khushf, George
    Greally, John M.
    Turley, Patrick
    Foyouzi, Nastaran
    Rabin-Havt, Sara
    Berkman, Benjamin
    Pope, Kathleen
    Vatta, Matteo
    Kaur, Shagun
    GENETICS IN MEDICINE, 2024, 26 (08)
  • [29] DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)
    Bean, Lora J. H.
    Scheuner, Maren T.
    Murray, Michael F.
    Biesecker, Leslie G.
    Green, Robert C.
    Monaghan, Kristin G.
    Palomaki, Glenn E.
    Sharp, Richard R.
    Trotter, Tracy L.
    Watson, Michael S.
    Powell, Cynthia M.
    GENETICS IN MEDICINE, 2021, 23 (06) : 979 - 988
  • [30] Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)
    Deignan, Joshua L.
    Gregg, Anthony R.
    Grody, Wayne W.
    Guo, Michael H.
    Kearney, Hutton
    Monaghan, Kristin G.
    Raraigh, Karen S.
    Taylor, Jennifer
    Zepeda-Mendoza, Cinthya J.
    GENETICS IN MEDICINE, 2023, 25 (08)