International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

被引：111

作者：

Welling, Lindsey ^{[1
]}

Bernstein, Laurie E. ^{[2
]}

Berry, Gerard T. ^{[3
,4
]}

Burlina, Alberto B. ^{[5
]}

Eyskens, Francois ^{[6
]}

Gautschi, Matthias ^{[7
,8
]}

Grunewald, Stephanie ^{[9
]}

Gubbels, Cynthia S.

Knerr, Ina ^{[10
]}

Labrune, Philippe ^{[11
]}

van der Lee, Johanna H. ^{[12
]}

MacDonald, Anita ^{[13
]}

Murphy, Elaine ^{[14
]}

Portnoi, Pat A. ^{[15
]}

Ounap, Katrin ^{[16
,17
]}

Potter, Nancy L. ^{[18
]}

Rubio-Gozalbo, M. Estela ^{[19
]}

Spencer, Jessica B. ^{[20
]}

Timmers, Inge ^{[21
]}

Treacy, Eileen P. ^{[22
,23
]}

Van Calcar, Sandra C. ^{[24
]}

Waisbren, Susan E. ^{[25
,26
]}

Bosch, Annet M. ^{[1
]}

机构：

[1] Acad Med Ctr, Emma Childrens Hosp, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

[2] Univ Colorado, Childrens Hosp Colorado, Sect Clin Genet & Metab, Denver Sch Med,Inherited Metab Dis Nutr Dept, Aurora, CO USA

[3] Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA

[4] Broad Inst MIT & Harvard, Cambridge, MA USA

[5] Univ Padua, Univ Hosp, Dept Pediat, Metab Unit, Padua, Italy

[6] Antwerp Univ Hosp UZA, Dept ofMetabol Disorders Children, Edegem, Belgium

[7] Univ Childrens Hosp, Pediat Endocrinol Diabet & Metab, Bern, Switzerland

[8] Univ Bern, Inst Clin Chem, Inselspital, Bern, Switzerland

[9] UCL, Great Ormond St Hosp & Inst Child Hlth, Metab Unit, London, England

[10] Temple St Childrens Univ Hosp, Natl Ctr Inherited Metab Disorders, Dublin, Ireland

[11] Hop Antoine Beclere, AP HP, Dept Pediat, Cedex Clamart, France

[12] Acad Med Ctr, Emma Childrens Hosp, Pediat Clin Res Off, Amsterdam, Netherlands

[13] Birmingham Childrens Hosp, Steelhouse Lane, Birmingham, W Midlands, England

[14] Natl Hosp Neurol & Neurosurg, Charles Dent Metab Unit, Queen Sq, London, England

[15] Galactosemia Support Grp, Med Advisory Panel, London, W Midlands, England

[16] Univ Tartu, Dept Pediat, Tartu, Estonia

[17] Tartu Univ Hosp, Dept Genet, Tartu, Estonia

[18] Washington State Univ, Dept Speech & Hearing Sci, Spokane, WA USA

[19] Maastricht Univ, Dept Pediat & Lab Genet Metab Dis, Med Ctr, Maastricht, Netherlands

[20] Emory Univ, Sch Med, Dept Gynecol & Obstet, Atlanta, GA USA

[21] Maastricht Univ, Dept Cognit Neurosci, Maastricht, Netherlands

[22] Temple St Childrens Univ Hosp, Natl Ctr Inherited Metab Disorders, Dublin, Ireland

[23] Mater Misericordiae Univ Hosp, Dublin, Ireland

[24] Oregon Hlth & Sci Univ, Sch Med, Dept ofMolecular andMed Genet, Portland, OR USA

[25] Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA

[26] Harvard Med Sch, Boston, MA USA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2017年 / 40卷 / 02期

关键词：

D O I：

10.1007/s10545-016-9990-5

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. A systematic review of the literature was performed, after key questions were formulated during an initial GalNet meeting. The first author and one of the working group experts conducted data-extraction. All experts were involved in data-extraction. Quality of the body of evidence was evaluated and recommendations were formulated. Whenever possible recommendations were evidence-based, if not they were based on expert opinion. Consensus was reached by multiple conference calls, consensus rounds via e-mail and a final consensus meeting. Recommendations addressing diagnosis, dietary treatment, biochemical monitoring, and follow-up of clinical complications were formulated. For all recommendations but one, full consensus was reached. A 93 % consensus was reached on the recommendation addressing age at start of bone density screening. During the development of this guideline, gaps of knowledge were identified in most fields of interest, foremost in the fields of treatment and follow-up.

引用

页码：171 / 176

页数：6

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