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01.12.2014 | Research | Ausgabe 1/2014 Open Access

Orphanet Journal of Rare Diseases 1/2014

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA

Zeitschrift:
Orphanet Journal of Rare Diseases > Ausgabe 1/2014
Autoren:
Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, Pao Chin Chiu, Yu-Yuan Ke, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Ju-Li Lin, Shuan-Pei Lin
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1750-1172-9-21) contains supplementary material, which is available to authorized users.
Hsiang-Yu Lin, Chih-Kuang Chuang contributed equally to this work.

Competing interests

Shuan-Pei Lin and Hsiang-Yu Lin have received honoraria for acting as consultants and study investigators for BioMarin Pharmaceutical Inc.

Authors’ contributions

HYL and CKC performed acquisition, statistical analysis and interpretation of data, and drafting of the manuscript. SPL participated in design of the study, interpretation of the data and helped to draft the manuscript. CKC performed biochemical analyses and revised the manuscript. MRC, PCC, YYK, DMN, FJT, WLH, and JLL were responsible for patient screening. All authors read and accepted the manuscript.

Abstract

Background

Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency, which catalyzes a step in the catabolism of glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate. This disease has a variable age of onset and rate of progression.

Methods

A retrospective analysis of medical records of 24 patients with MPS IVA (11 males, 13 females; current mean age ± SD, 12.6 ± 6.6 years; age range, 1.4-29.4 years) seen at 6 medical centers in Taiwan from January 1996 through June 2013 was performed.

Results

Mean ages of onset of symptoms and confirmed diagnosis were 2.0 ± 1.6 and 5.7 ± 4.5 years, respectively. The most prevalent clinical manifestations were kyphosis (100%), pectus carinatum (96%), abnormal gait (93%), striking short trunk dwarfism (92%), genu valgum (92%), and valvular heart disease (91%). Eight patients (33%) experienced at least one surgical procedure with the most common being ear tube insertion (25%), adenoidectomy (17%), tonsillectomy (13%), supraglottoplasty (13%), spinal decompression (13%), and spinal fusion (13%). The most prevalent cardiac valve abnormalities were aortic stenosis (45%) and mitral regurgitation (45%). At the time of the study, 8 out of 24 patients (33%) have died at the mean age of 17.2 ± 7.7 years.

Conclusions

An understanding of the natural history involved in MPS IVA may allow early diagnosis of the disease. All affected Taiwanese patients experienced significant functional limitations. Adequate evaluations and timely management may improve clinical outcomes and quality of life.
Zusatzmaterial
Authors’ original file for figure 1
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Authors’ original file for figure 5
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Authors’ original file for figure 6
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Literatur
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