Geç Tanı Almış Morquio Sendromu Olgusu

Year 2013, Volume: 7 Issue: 1,EK, 66 - 70, 01.06.2013

Özlem Sangün Nihal Olgaç Dündar Bumin Dündar Aldülkerim Elmas Hakan Salman

Abstract

Morquio Tip A Sendromu (MPS IVA) N-asetilgalaktozamin-6-sulfat sulfataz eksikliği ile ortaya çıkan, kornea ve kemikte keratan sülfat ve kondroitin-6-sulfat birikimi ile karakterize, otozomal resesif geçişli bir lizozomal depo hastalığıdır. Başlıca klinik bulgular; kısa boy, iskelet displazisi, dental anomaliler ve korneal bulutlanmadır. Bunlara sinirsel tip işitme kaybı, kalp kapağı hastalıkları, eklem laksitesi ve servikal myelopati eşlik edebilir. Merkezi sinir sistemi tutulumunun olmaması sebebiyle enzim replasman tedavisi ve gen tedavilerinin uygulanabileceği bir hastalık olarak kabul edilmektedir. Preklinik çalışmalarda enzim replasman tedavisi ile doku ve kandaki keratan sülfat oranında anlamlı düşüş gösterilmiştir. Ancak lizozomal depo hastalıklarında tedavinin başarılı olabilmesi hastalığın erken dönemlerinde başlanması ile mümkündür. Bu yazıda, kliniğimize 11 yaş 2 aylık iken, ağır solunum yetersizliği tablosu ile başvuran, yaygın iskelet displazisi bulguları olan ve Morquio Tip A tanısını geç almış olan bir hasta sunulmuştur.

Keywords

Morquio sendromu, Tanı

Late Diagnosis of a Patient with Morquio Syndrome

Abstract

Morquio Type A Syndrome (Mucopolysaccharidosis IVA) is an autosomal recessive disorder characterized by the lysosomal accumulation of keratan sulfate and chondroitin-6 sulfate particularly in the bone and cornea due to the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. The major clinical signs are short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Sensorineural hearing loss, valvular heart diseases, joint laxity, and cervical myelopathy can also accompany the disease. As the affected patients do not have central nervous system involvement, the Morquio A syndrome is accepted to be a good candidate for enzyme replacement and gene therapies. Preclinical studies have shown that enzyme replacement treatment enables a significant decrease in tissue and blood keratan sulfate levels, and treatment should be performed as early as possible in lysosomal storage diseases in order to achieve successful curative therapy. In this case report, we present a patient aged 11 years and 2 months who had systemic skeletal dysplasia and was admitted to our hospital with terminal respiratory failure. Unfortunately, the patient was diagnosed as MPS IVA at the late stage of the disease and did not receive any enzyme replacement treatment

Keywords

Morquio syndrome, Diagnosis

References

• Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. J Am Med Assoc 1999; 281: 249-54.
• Fuller M, Rozaklis T, Ramsay SL, Hopwood JJ, Meikle PJ. Disease- specific markers for the mucopolysaccharidoses. Pediatr Res 2004; 56: 733-8.
• Neufeld E, Muenzer J. The mucopolysaccharidosis. In: Scriver C, Beaudet A, Sly W, Valle D (eds). The Metabolic and Molecular Bases of Inherited Diseases. New York: McGraw-Hill, 2001:3421- 52.
• Montaño AM, Tomatsu S, Gottesman G, Smith M, Orii T. International Morquio A registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis 2007; 30:165-74.
• Tomatsu S, Montaño AM, Oguma T, Dung VC, Oikawa H, de Carvalho TG, et al. Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography- tandem mass spectrometry. J Inherit Metab Dis 2010; [Epub ahead of print].
• Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, et al. Morquio disease: isolation, characterization and expression of full-length cDNA for human Nacetylgalactosamine-6-sulfate sulfatase. Biochem Biophys Res Commun 1991; 181: 677-82.
• Baker E, Guo XH, Orsborn AM, Sutherland GR, Callen DF, Hopwood JJ, Morris CP. The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3. Am J Hum Genet 1993; 52: 96-8.
• Tomatsu S, Montano AM, Nishioka T, Gutierrez MA, Pena OM, Tranda Firescu GG, et al. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IV A (Morquio A). Hum Mutat 2005; 26: 500-12.
• Metab Dis 2005; 28: 187-202.
• Thonar EJ, Pachman LM, Lenz ME, Hayford J, Lynch P, Kuettner KE. Age related changes in the concentration of serum keratan sulphate in children. J Clin Chem Clin Biochem 1988; 2: 57-63.