Gupta Ashish, Uttarilli Anusha, Dalal Ashwin, Girisha Katta M
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Udupi, Karnataka, India.
Diagnostics Division, Center for DNA Finger Printing and Diagnostics, Hyderabad, India Graduate Studies, Manipal University, Manipal, Udupi, Karnataka, India.
BMJ Case Rep. 2015 May 14;2015:bcr2015209305. doi: 10.1136/bcr-2015-209305.
Hunter syndrome is an X linked recessive mucopolysaccharidosis (type II) caused by the deficiency of iduronate 2-sulfatase. This in turn leads to the accumulation of glycosaminoglycans, dermatan and heparan sulfate. The intracellular and extracellular accumulation of these substances lead to multisystemic organ abnormality. It is a rare syndrome with a very low prevalence of 1.3:100,000 male live births. Usual presentation is in early childhood although milder variants have been documented to present at a later age. We present a rare case of Hunter syndrome in a 24-year-old male patient who presented with joint contractures and recent onset hoarseness of voice. X-rays were suggestive of dysostosis multiplex. Clinical diagnosis of Hunter syndrome was confirmed by enzyme assay and further by mutational analysis.
亨特综合征是一种由艾杜糖醛酸2-硫酸酯酶缺乏引起的X连锁隐性黏多糖贮积症（II型）。这进而导致糖胺聚糖、硫酸皮肤素和硫酸乙酰肝素的积累。这些物质在细胞内和细胞外的积累导致多系统器官异常。这是一种罕见的综合征，男性活产患病率极低，为1.3:100,000。通常在幼儿期发病，不过有文献记载症状较轻的变异型可在较晚年龄出现。我们报告一例罕见的亨特综合征病例，患者为一名24岁男性，表现为关节挛缩和近期出现的声音嘶哑。X线检查提示多发性骨发育异常。通过酶测定并进一步通过突变分析确诊为亨特综合征。
