Bilateral hip replacement in three patients with lysosomal storage disease: Mucopolysaccharidosis type IV and Mucolipidosis type III

Lewis, J.R.; Gibson, Peter H.

doi:10.1302/0301-620x.92b2.23104

Cited by 24 publications

(16 citation statements)

References 17 publications

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“…Patients with MPS IVA are prone to resubluxation, and so augmentation with an acetabular shelf procedure has also been recommended. Total hip arthroplasty is advocated in young adult patients with MPS IVA who have pain limiting hip disease, beyond traditional reconstructive capabilities [170]. …”

Section: Therapy and Managementmentioning

confidence: 99%

Mucopolysaccharidosis IVA and glycosaminoglycans

Khan

Alméciga-Díaz

Sawamoto

et al. 2017

Molecular Genetics and Metabolism

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Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS). C6S and KS are mainly produced in the cartilage. Therefore, the undegraded substrates are stored primarily in cartilage and in its extracellular matrix (ECM), leading to a direct impact on cartilage and bone development, and successive systemic skeletal dysplasia. Chondrogenesis, the earliest phase of skeletal formation, is maintained by cellular interactions with the ECM, growth and differentiation factors, signaling pathways, and transcription factors in a temporal-spatial manner. In patients with MPS IVA, the cartilage is disrupted at birth as a consequence of abnormal chondrogenesis and/or endochondral ossification. The unique skeletal features are distinguished by a disproportional short stature, odontoid hypoplasia, spinal cord compression, tracheal obstruction, pectus carinatum, kyphoscoliosis, platyspondyly, coxa valga, genu valgum, waddling gait, and laxity of joints. In spite of many descriptions of these unique clinical features, delay of diagnosis still happens. The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge. In this review article, we comprehensively describe historical aspect, property of GAGs, diagnosis, screening, pathogenesis, and current and future therapies of MPS IVA.

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Section: Therapy and Managementmentioning

confidence: 99%

Mucopolysaccharidosis IVA and glycosaminoglycans

Khan

Alméciga-Díaz

Sawamoto

et al. 2017

Molecular Genetics and Metabolism

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“…Interventions for managing hip subluxation, knee valgus, and ankle valgus in patients with Morquio A syndrome have been recently discussed in detail by White et al [ 2014 ]. Briefly, depending on age and severity of the deformity, hip subluxation can be managed using pelvic and femoral osteotomy, shelf acetabuloplasty, or total hip arthroplasty [Tassinari et al, 2008 ; Pryce Lewis and Gibson, 2010 ; Dhawale et al, 2012 ; White, 2012 ]. Correction of knee valgus using guided growth (8-plate hemiepiphysiodesis) is effective in the growing child and may prevent hip problems and ankle valgus at a later age [Dhawale et al, 2012 ].…”

Section: Symptom-based Managementmentioning

confidence: 99%

International guidelines for the management and treatment of Morquio A syndrome

Hendriksz

Berger

Giugliani

et al. 2014

American J of Med Genetics Pt A

111

136

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Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients. Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists. The current paper presents international guidelines for the evaluation, treatment and symptom-based management of Morquio A syndrome. These guidelines were developed during two expert meetings by an international panel of specialists in pediatrics, genetics, orthopedics, pulmonology, cardiology, and anesthesia with extensive experience in managing Morquio A syndrome. © 2014 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc.

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“…There is limited reporting of the use of THR in Hurler syndrome (MPS type I). Pryce Lewis and Gibson reported satisfactory results with THR in three patients suffering from MPS type III and IV [9]. In patients with Hurler syndrome and hip dysplasia Masterson et al [10] have emphasised the role of hip containment procedure including various forms of innominate osteotomy; however, in advanced cases, total hip arthroplasty may play a role.…”

Section: Discussionmentioning

confidence: 99%

Total Hip Arthroplasty in Mucopolysaccharidosis Type IH

O’hEireamhoin

Bayer

Mulhall

2011

Case Reports in Orthopedics

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Children affected by mucopolysaccharidosis (MPS) type IH (Hurler Syndrome), an autosomal recessive metabolic disorder, are known to experience a range of musculoskeletal manifestations including spinal abnormalities, hand abnormalities, generalised joint stiffness, genu valgum, and hip dysplasia and avascular necrosis. Enzyme therapy, in the form of bone marrow transplantation, significantly increases life expectancy but does not prevent the development of the associated musculoskeletal disorders. We present the case of a 23-year-old woman with a diagnosis of Hurler syndrome with a satisfactory result following uncemented total hip arthroplasty.

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Bilateral hip replacement in three patients with lysosomal storage disease: Mucopolysaccharidosis type IV and Mucolipidosis type III

Cited by 24 publications

References 17 publications

Mucopolysaccharidosis IVA and glycosaminoglycans

Mucopolysaccharidosis IVA and glycosaminoglycans

International guidelines for the management and treatment of Morquio A syndrome

Total Hip Arthroplasty in Mucopolysaccharidosis Type IH

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