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A Case of Hunter Syndrome Presented with Chronic Purulent Rhinorrhea in 24-month-old Boy  

Kim, I An (Department of Pediatrics, Soonchunhyang University Hospital)
Jin, Jang Yong (Department of Pediatrics, Soonchunhyang University Hospital)
Park, Jae Ock (Department of Pediatrics, Soonchunhyang University Hospital)
Hong, Yong Hee (Department of Pediatrics, Soonchunhyang University Hospital)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.15, no.3, 2015 , pp. 160-164 More about this Journal
Abstract
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.
Keywords
Mucopolysaccharidosis type II (MPS type II); Iduronate-2-sulfatase (IDS2); Hunter syndrome; Chronic rhinorrhea;
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Times Cited By KSCI : 3  (Citation Analysis)
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