Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

被引：31

作者：

Akyol, Mehmet Umut ^{[1
]}

Alden, Tord D. ^{[2
]}

Amartino, Hernan ^{[3
]}

Ashworth, Jane ^{[4
]}

Belani, Kumar ^{[5
]}

Berger, Kenneth I. ^{[6
,7
,8
]}

Borgo, Andrea ^{[9
]}

Braunlin, Elizabeth ^{[10
]}

Eto, Yoshikatsu ^{[11
,12
]}

Gold, Jeffrey I. ^{[13
,14
,15
]}

Jester, Andrea ^{[16
]}

Jones, Simon A. ^{[17
]}

Karsli, Cengiz ^{[18
]}

Mackenzie, William ^{[19
]}

Marinho, Diane Ruschel ^{[20
,21
]}

McFadyen, Andrew ^{[22
]}

McGill, Jim ^{[23
]}

Mitchell, John J. ^{[24
]}

Muenzer, Joseph ^{[25
]}

Okuyama, Torayuki ^{[26
]}

Orchard, Paul J. ^{[27
]}

Stevens, Bob ^{[28
]}

Thomas, Sophie ^{[28
]}

Walker, Robert ^{[29
]}

Wynn, Robert ^{[30
]}

Giugliani, Roberto ^{[31
,32
]}

Harmatz, Paul ^{[33
]}

Hendriksz, Christian ^{[34
]}

Scarpa, Maurizio ^{[35
,36
]}

机构：

[1] Hacettepe Univ, Dept Otolaryngol, Ankara, Turkey

[2] Northwestern Univ, Ann & Robert H Lurie Childrens Hosp Chicago, Feinberg Sch Med, Dept Neurosurg, Chicago, IL 60611 USA

[3] Hosp Univ Austral, Child Neurol Dept, Buenos Aires, DF, Argentina

[4] Manchester Univ NHS Fdn Trust, Manchester Royal Eye Hosp, Dept Paediat Ophthalmol, Manchester, Lancs, England

[5] Univ Minnesota, Dept Anesthesiol, Minneapolis, MN 55455 USA

[6] NYU, Sch Med, Dept Med, Bellevue Hosp,Andre Cournand Pulm Physiol Lab, New York, NY USA

[7] NYU, Sch Med, Dept Neurosci, Bellevue Hosp,Andre Cournand Pulm Physiol Lab, New York, NY USA

[8] NYU, Sch Med, Dept Physiol, Bellevue Hosp,Andre Cournand Pulm Physiol Lab, New York, NY USA

[9] Padova Univ Hosp, Orthopaed Clin, Padua, Italy

[10] Univ Minnesota, Div Pediat Cardiol, Minneapolis, MN USA

[11] Inst Neurol Disorders, Adv Clin Res Ctr, Kawasaki, Kanagawa, Japan

[12] Tokyo Jikei Univ, Sch Med, Dept Paediat Gene Therapy, Tokyo, Japan

[13] Childrens Hosp Los Angeles, Dept Anesthesiol Crit Care Med, Keck Sch Med, Dept Anesthesiol, 4650 Sunset Blvd, Los Angeles, CA 90027 USA

[14] Childrens Hosp Los Angeles, Dept Anesthesiol Crit Care Med, Keck Sch Med, Dept Pediat, 4650 Sunset Blvd, Los Angeles, CA 90027 USA

[15] Childrens Hosp Los Angeles, Dept Anesthesiol Crit Care Med, Keck Sch Med, Dept Psychiat & Behav Sci, 4650 Sunset Blvd, Los Angeles, CA 90027 USA

[16] Birmingham Womens & Childrens Hosp, Dept Plast Surg, Hand & Upper Limb Serv, Birmingham, W Midlands, England

[17] Manchester Univ NHS Fdn Trust, St Marys Hosp, Manchester Ctr Genom Med, Willink Biochem Genet Unit, Manchester, Lancs, England

[18] Hosp Sick Children, Dept Anesthesiol & Pain Med, Toronto, ON, Canada

[19] Nemours Alfred I Dupont Hosp Children, Dept Orthoped, Wilmington, DE USA

[20] Univ Fed Rio Grande do Sul, Dept Ophthalmol, Porto Alegre, RS, Brazil

[21] HCPA, Ophthalmol Serv, Porto Alegre, RS, Brazil

[22] Isaac Fdn, Campbellford, ON, Canada

[23] Queensland Childrens Hosp, Dept Metab Med, Brisbane, Qld, Australia

[24] Montreal Childrens Hosp, Div Pediat Endocrinol, Montreal, PQ, Canada

[25] Univ N Carolina, Sch Med, Dept Pediat, Chapel Hill, NC 27515 USA

[26] Natl Ctr Child Hlth & Dev, Dept Clin Lab Med, Tokyo, Japan

[27] Univ Minnesota, Dept Pediat, Div Blood & Marrow Transplantat, Minneapolis, MN 55455 USA

[28] MPS Soc, Amersham, Bucks, England

[29] Royal Manchester Childrens Hosp, Dept Paediat Anaesthesia, Manchester, Lancs, England

[30] Royal Manchester Childrens Hosp, Dept Paediat Haematol, Manchester, Lancs, England

[31] Univ Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil

[32] HCPA, Med Genet Serv, Porto Alegre, RS, Brazil

[33] UCSF, Benioff Childrens Hosp Oakland, Oakland, CA USA

[34] Univ Pretoria, Steve Biko Acad Hosp, Pretoria, South Africa

[35] Host Schmidt Kliniken, Ctr Rare Dis, Wiesbaden, Germany

[36] Univ Padua, Dept Paediat, Padua, Italy

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2019年 / 14卷 / 1期

关键词：

Maroteaux-Lamy syndrome; Mucopolysaccharidosis; MPS VI; Management guidelines; Galsulfase; Enzyme replacement therapy; ERT; Haematopoietic stem cell transplantation; HSCT; Surgery; Anaesthetics; ENZYME-REPLACEMENT THERAPY; MAROTEAUX-LAMY-SYNDROME; MUCOPOLYSACCHARIDOSIS TYPE-VI; OBSTRUCTIVE SLEEP-APNEA; LYSOSOMAL STORAGE DISORDERS; STEM-CELL TRANSPLANTATION; BONE-MARROW-TRANSPLANTATION; SPINAL-CORD COMPRESSION; VALVULAR HEART-DISEASE; CARPAL-TUNNEL-SYNDROME;

D O I：

10.1186/s13023-019-1080-y

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive nature of MPS VI necessitates a multidisciplinary team approach and there is a need for robust guidance to achieve optimal management. This programme was convened to develop evidence-based, expert-agreed recommendations for the general principles of management, routine monitoring requirements and the use of medical and surgical interventions in patients with MPS VI.Methods26 international healthcare professionals from various disciplines, all with expertise in managing MPS VI, and three patient advocates formed the Steering Committee group (SC) and contributed to the development of this guidance. Members from six Patient Advocacy Groups (PAGs) acted as advisors and attended interviews to ensure representation of the patient perspective. A modified-Delphi methodology was used to demonstrate consensus among a wider group of healthcare professionals with expertise and experience managing patients with MPS VI and the manuscript has been evaluated against the validated Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument by three independent reviewers.ResultsA total of 93 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT); (4) interventions to support respiratory and sleep disorders; (5) anaesthetics and surgical interventions. Consensus was reached on all statements after two rounds of voting. The greatest challenges faced by patients as relayed by consultation with PAGs were deficits in endurance, dexterity, hearing, vision and respiratory function. The overall guideline AGREE II assessment score obtained for the development of the guidance was 5.3/7 (where 1 represents the lowest quality and 7 represents the highest quality of guidance).ConclusionThis manuscript provides evidence- and consensus-based recommendations for the management of patients with MPS VI and is for use by healthcare professionals that manage the holistic care of patients with the intention to improve clinical- and patient-reported outcomes and enhance patient quality of life. It is recognised that the guidance provided represents a point in time and further research is required to address current knowledge and evidence gaps.

引用

页数：21

共 125 条

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