Mucopolysaccharidosis VII: report of a case and review of the literature / 中华儿科杂志
Chinese Journal of Pediatrics
; (12): 455-458, 2011.
Article
в Zh
| WPRIM
| ID: wpr-277024
Ответственная библиотека:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical characteristics and diagnosis of mucopolysaccharidosis VII.</p><p><b>METHOD</b>The clinical and biochemical features of an infant with mucopolysaccharidosis VII confirmed by enzyme assay were analyzed.</p><p><b>RESULT</b>The 2 month-old male infant showed hydrops fetalis, mental retardation, coarse face, corneal clouding, hepatosplenomegaly, hernias, Alder-Reilly granules in the leucocytes and decreased platelet (32 × 10(9)/L). The biochemical markers showed urinary glycosaminoglycans (GAG) (532.8 mg/L, controls < 70.0 mg/L). The ratio of GAG/creatinine was 161.3 (controls 26.2 ± 11.7). Serum chitotriosidase activity was 315.8 nmol/(ml·h) [control < 53 nmol/(ml·h)]. Beta-glucuronidase activity was deficient in isolated leukocytes.</p><p><b>CONCLUSION</b>Severe form of mucopolysaccharidosis VII exhibited characteristics of hydrops fetalis, hepatosplenomegaly, coarse face, thrombocytopenia and Alder-Reilly granules in the leucocytes. The measurements of GAG in urinary and beta glucuronidase in leucocytes are critical to diagnosis and deferential diagnosis.</p>
Полный текст:
1
База данных:
WPRIM
Основная тема:
Urine
/
Mucopolysaccharidosis VII
/
Glucuronidase
/
Glycosaminoglycans
/
Leukocytes
/
Metabolism
Пределы темы:
Humans
/
Infant
/
Male
Язык:
Zh
Журнал:
Chinese Journal of Pediatrics
Год:
2011
Тип:
Article