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KMID : 0918520150150030160
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Journal of the Korean Society of Inherited Metabolic Disease
2015 Volume.15 No. 3 p.160 ~ p.164
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A Case of Hunter Syndrome Presented with Chronic Purulent Rhinorrhea in 24-month-old Boy
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Kim I-An
Jin Jang-Yong
Park Jae-Ock
Hong Young-Hee
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Abstract
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Hunter syndrome(Mucopolysaccharidosis type II, MPS type II) is an X-linked disorder of glycosaminoglycans (GAGs) metabolism caused by an iduronate-2-sulfatase (IDS2) deficiency. A 24-month-old boy visited the department of pediatrics with the chief compliant of chronic purulent rhinorrhea beginning at age one. He had a history of repeated acute otitis media and chronic rhinitis. On physical examination he had a coarse face, enlarged tongue, distended abdomen, joint stiffness, and Mongolian spots at his first visit. The urine GAGs level was elevated at 66.10 mg/mmolCr (reference range, <11.1) and iduronate- 2-sulfatase activity in leukocyte was decreased at 0.21 nmol/mg protein/hr (reference range, 18.7-
57). Finally with an IDS gene mutational analysis, recombinant known mutation between intron 7 and distal of exon 3 in IDS2 was detected. Recombinant iduronate-2-sulfatase therapy was started without any infusion related reactions. The author highlights the importance of suspecting Hunter syndrome when pediatric patients visit with chronic purulent rhinorrhea which is a common cause of hospital visits for infants and children.
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KEYWORD
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Mucopolysaccharidosis type II (MPS type II), Iduronate-2-sulfatase (IDS2), Hunter syndrome, Chronic rhinorrhea
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