Respiratory and sleep disorders in mucopolysaccharidosis

被引：106

作者：

Berger, Kenneth I. ^{[1
,12
]}

Fagondes, Simone C. ^{[2
]}

Giugliani, Roberto ^{[3
,4
]}

Hardy, Karen A. ^{[5
]}

Lee, Kuo Sheng ^{[6
]}

McArdle, Ciaran ^{[7
]}

Scarpa, Maurizio ^{[8
]}

Tobin, Martin J. ^{[9
]}

Ward, Susan A. ^{[10
]}

Rapoport, David M. ^{[11
]}

机构：

[1] NYU, Sch Med, Dept Med Physiol & Neurosci, Andre Cournand Pulm Physiol Lab,Bellevue Hosp, New York, NY 10016 USA

[2] Hosp Clin Porto Alegre, Dept Pulm Med, Porto Alegre, RS, Brazil

[3] Univ Fed Rio Grande do Sul, Dept Genet, Med Genet Serv, HCPA, Porto Alegre, RS, Brazil

[4] INAGEMP, Porto Alegre, RS, Brazil

[5] Childrens Hosp & Res Ctr Oakland, Oakland, CA USA

[6] Mackay Mem Hosp, Taipei, Taiwan

[7] Birmingham Childrens Hosp, Birmingham, W Midlands, England

[8] Univ Padua, Dept Pediat, Padua, Italy

[9] Hines VA Hosp, Hines, IL USA

[10] Human Bioenerget Res Ctr, Crickhowell, England

[11] NYU, Sch Med, Dept Med, New York, NY 10016 USA

[12] NYU, Sch Med, Dept Med Physiol & Neurosci, New York, NY 10016 USA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2013年 / 36卷 / 02期

关键词：

ENZYME-REPLACEMENT THERAPY; MAROTEAUX-LAMY-SYNDROME; N-ACETYLGALACTOSAMINE; 4-SULFATASE; OBESITY HYPOVENTILATION SYNDROME; BONE-MARROW-TRANSPLANTATION; II HUNTER-SYNDROME; TERM-FOLLOW-UP; AIRWAY PRESSURE; OSCILLATION TECHNIQUE; COMPUTED-TOMOGRAPHY;

D O I：

10.1007/s10545-012-9555-1

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

MPS encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans (GAG) in organs and tissues. This accumulation can lead to the progressive development of a variety of clinical manifestations. Ear, nose, throat (ENT) and respiratory problems are very common in patients with MPS and are often among the first symptoms to appear. Typical features of MPS include upper and lower airway obstruction and restrictive pulmonary disease, which can lead to chronic rhinosinusitis or chronic ear infections, recurrent upper and lower respiratory tract infections, obstructive sleep apnoea, impaired exercise tolerance, and respiratory failure. This review provides a detailed overview of the ENT and respiratory manifestations that can occur in patients with MPS and discusses the issues related to their evaluation and management.

引用

页码：201 / 210

页数：10

共 66 条

[21] Bronchodilator response in 3-6.5 years old healthy and stable asthmatic children [J].

Hellinckx, J ;

De Boeck, K ;

Bande-Knops, J ;

van der Poel, M ;

Demedts, M .

EUROPEAN RESPIRATORY JOURNAL, 1998, 12 (02) :438-443

[22]

Ingelmo PM, 2011, MINERVA ANESTESIOL, V77, P774

[23] Complications of tracheotomy in patients with mucopolysaccharidoses type II (Hunter syndrome) [J].

Jeong, Han-Sin ;

Cho, Do-Yeon ;

Ahn, Kang Mo ;

Jin, Dong-Kyu .

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2006, 70 (10) :1765-1769

[24] Sleep Abnormalities in Untreated Patients With Mucopolysaccharidosis Type VI [J].

John, Angela ;

Fagondes, Simone ;

Schwartz, Ida ;

Azevedo, Cecilia ;

Barrios, Patricia ;

Dalcin, Paulo ;

Menna-Barreto, Sergio ;

Giugliani, Roberto .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (07) :1546-1551

[25] Proposed Definitive Grading System Tool for the Assessment of Adenoid Hyperplasia [J].

Josephson, Gary D. ;

Duckworth, Laurie ;

Hossain, Jobayer .

LARYNGOSCOPE, 2011, 121 (01) :187-193

[26] Diagnosis and management of respiratory involvement in Hunter syndrome [J].

Kamin, Wolfgang .

ACTA PAEDIATRICA, 2008, 97 :57-60

[27]

Klug B, 1996, PEDIATR PULM, V21, P290

[28] BONE-MARROW TRANSPLANTATION IN THE MAROTEAUX-LAMY SYNDROME (MUCOPOLYSACCHARIDOSIS TYPE-VI) - BIOCHEMICAL AND CLINICAL STATUS 24 MONTHS AFTER TRANSPLANTATION [J].

KRIVIT, W ;

PIERPONT, ME ;

AYAZ, K ;

TSAI, M ;

RAMSAY, NKC ;

KERSEY, JH ;

WEISDORF, S ;

SIBLEY, R ;

SNOVER, D ;

MCGOVERN, MM ;

SCHWARTZ, MF ;

DESNICK, RJ .

NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (25) :1606-1611

[29] Analysis of the Upper Airway by the Acoustic Reflection Method in Children With Mucopolysaccharidosis [J].

Leboulanger, Nicolas ;

Louis, Bruno ;

Vialle, Raphael ;

Heron, Benedicte ;

Fauroux, Brigitte .

PEDIATRIC PULMONOLOGY, 2011, 46 (06) :587-594

[30] Disordered breathing during sleep in patients with mucopolysaccharidoses [J].

Leighton, SEJ ;

Papsin, B ;

Vellodi, A ;

Dinwiddie, R ;

Lane, R .

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2001, 58 (02) :127-138

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