Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA / 소아과
Korean Journal of Pediatrics
; : 430-437, 2012.
Article
de En
| WPRIM
| ID: wpr-47229
Bibliothèque responsable:
WPRO
ABSTRACT
PURPOSE: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for determining factors that may allow early diagnosis and that may thus improve the patients' quality of life. METHODS: MPS IVA was confirmed via assay for enzymatic activity of leukocytes in 10 patients. The GALNS gene was analyzed. Patients' charts were retrospectively reviewed for obtaining clinical features and evaluated for radiological skeletal surveys, echocardiography, pulmonary function test, and ophthalmologic test results. RESULTS: Nine patients had severe clinical phenotype, and 1 had an intermediate phenotype, on the basis of clinical phenotype criteria. Radiologic findings indicated skeletal abnormalities in all patients, especially in the hips and extremities. Eight patients had an odontoid hypoplasia, and 1 showed mild atlantoaxial subluxation and cord myelopathy. Genetic analysis indicated 10 different GALNS mutations. Two mutations, c.451C>A and c.1000C>T, account for 37.5% (6/16) and 25% (4/16) of all mutations in this samples, respectively. CONCLUSION: An understanding of the clinical and radiological features involved in MPS IVA may allow early diagnosis of MPS IVA. Adequate evaluations and therapy in the early stages may improve the quality of life of patients suffering from skeletal abnormalities and may reduce life-threatening effects of atlantoaxial subluxation.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Phénotype
/
Qualité de vie
/
Tests de la fonction respiratoire
/
Maladies de la moelle épinière
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Stress psychologique
/
Échocardiographie
/
Études rétrospectives
/
Mucopolysaccharidoses
/
Mucopolysaccharidose de type IV
/
Diagnostic précoce
Type d'étude:
Diagnostic_studies
/
Observational_studies
/
Screening_studies
Limites du sujet:
Humans
langue:
En
Texte intégral:
Korean Journal of Pediatrics
Année:
2012
Type:
Article