• Journal of Korean Academy of Nursing
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• v.42 no.5
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• pp.609-621
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• 2012

Purpose: The purpose of this study was to explore the experiences of Korean mothers in parenting children with Hunter's syndrome, an X linked recessive genetically inherited disease usually affecting boys. Methods: Data were collected from 14 mothers having children with Hunter's syndrome, through two focus group interviews and individual in-depth interviews. Qualitative data from the field notes and transcribed notes were analyzed using the grounded theory methodology developed by Strauss & Corbin (1998). Results: The core category about the process of rearing children with Hunter's syndrome was identified as "navigating in the maze". The process of rearing children with Hunter's syndrome passed through three phases; 'entering an unknown region', 'struggling to escape from the unknown region', 'settling down in the unknown region'. Conclusion: In this study "navigating in the maze", as the core category deeply showed joys and sorrows of mothers in the process of rearing their children with Hunter's syndrome. In this rearing process they gradually adjusted themselves to their given condition. Also they gained initiatively coping strategies to care for, and protect their children. Therefore health care providers can establish supportive programs in the clinical field to empower these mothers by reflecting their proactive coping strategies.

• The Journal of Pediatrics of Korean Medicine
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• v.21 no.2
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• pp.145-152
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• 2007

Objectives The purpose of this study is to report a case that has an important meaning as a result of treating. Hunter syndrome patient with oriental medicine for elevation of quality of life and continuous health care. Methods The patient had abdominal dropsy, abdominal pain, constipation, frequent gases and the common cold, so we treated him with herbal medicine, acupuncture, infra red, laser, CEP nebulizer, aroma massage and cupping. Results After the treatment, the girth of abdomen didn't Increase any more, and abdominal pain, constipation, frequent gases and common cold were improved. Conclusions This study shows that oriental medicine can elevate the Hunter syndrome patient's quality of life with continuous heath care and treatment for major problem. For more accurate studies, further studies would be needed with more cases.

• The Journal of Dong Guk Oriental Medicine
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• v.10
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• pp.77-85
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• 2008

Objective : The purpose of this study is to report a case that has an important meaning as a result of treating Hunter syndrome patient with oriental medicine for elevation of quality of life and continuous health care. Methods : The patient complained of abdominal dropsy, abdominal pain, constipation, frequent gases and the common cold. So we treated him with herbal medicine, acupuncture, infra red, laser, CEP nebulizer, aroma massage and cupping. Results : After treatment, the girth of abdomen didn't increse any more and abdominal pain, constipation, frequent gases and common cold were improved. Conclusion : This study shows that oriental medicine can elevate the Hunter syndrome patient's quality of life with continuous heath care and treatment for chief complaint. The further study is needed with more cases.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.160-164
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• 2015

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.

• Journal of Korean Neurosurgical Society
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• v.54 no.3
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• pp.243-245
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• 2013

Bow hunter's syndrome (BHS) is rare cause of vertebrobasilar insufficiency that arises from mechanical compression of the vertebral artery by head rotation. There is no standardized diagnostic regimen or treatment of BHS. Recently, we experienced 2 cases resisted continues medication and treated by surgical approach. In both cases, there were no complications after surgery and there were improvements in clinical symptoms. Thus, we describe our cases with surgical decompression with a review of the relevant medical literature.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.156-162
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• 2014

A 25-month-old boy was referred to the hospital due to large head detected on routine physical examination. At visit, dysmorphic facial appearances, including broad nose, prominent forehead, and coarse face, were noted. Nasal obstruction with nasal voice, prominent adenoids, and bilateral middle ear effusions were detected. His abdomen was distended, and liver and spleen were palpated about 3 finger and 2 finger breadths, respectively. He was operated for bilateral inguinal hernias. The motion of both elbow joints was mildly limited on supination and pronation. Urinary level of glycosaminoglycan was elevated and the enzyme activity of iduronate sulfatase in leukocytes was decreased. The mutational analysis of the gene iduronate 2-sulfatase (IDS) revealed c.263G>A (p.Arg88His) mutation. His developmental scale showed delayed development and there was cardiac valvular involvement (tricuspid regurgitation and mitral valve prolapse). After the diagnosis of Hunter syndrome, enzyme replacement therapy started on a weekly basis without progression of any clinical features. Here we report a case of early diagnosed Hunter syndrome detected by large head on routine examination. Thus, it is important to associate Hunter syndrome in the patient with large head especially, if there is the history of bilateral inguinal hernia and prominent adenoids to increase the possibility of early diagnosis and treatment.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.178-181
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• 2014

Hunter syndrome (mucopolysaccharidosis type II, MPS II) is a X-linked lysosomal storage disease caused by a deficiency in the lysosomal enzyme, iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans within lysosomes of many organs and tissues. Since the enzyme replacement therapy was approved and available in the treatment of MPS I, II, VI, early diagnosis and early therapy can bring the better prognosis of disease and the better quality of life in patients. We described a 2.5 year old child presented with frequent otitis media and developmental delay including speech impairment, who was diagnosed as Hunter syndrome with IDS NM_000202.5:c. 263G>A(p.Arg88His) mutation.

• Korean Journal of Audiology
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• v.25 no.1
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• pp.49-54
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• 2021

Type II mucopolysaccharidosis (MPS II) commonly known as Hunter syndrome, is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, which in turn causes otorhinolaryngological manifestations, including sensorineural hearing loss (SNHL). Previously, the median survival age of patients with MPS was approximately 13.4 years. However, in the era of enzyme replacement therapy and other multidisciplinary care modalities, the life expectancy has increased. Herein, we report a rare case of an adolescent with MPS II who underwent SNHL treatment with cochlear implantation (CI). Based on unexpected findings of mastoid emissary veins and overgrowth of the vessels around the temporal bone, CI was performed using the transmeatal approach instead of the conventional transmastoid method, to avoid damage to the vessels. The average hearing threshold after CI was 35 dB and no surgical complications were encountered. Adolescent MPS II may present vessel abnormalities, which can reduce the success rate of surgery. In patients with MPS II with SNHL, CI should be performed under careful monitoring of vessel overgrowth. Moreover, with regard to feasibility of CI in adolescent patients with MPS II with SNHL, surgical techniques such as the transmeatal approach should be selected based on adequate assessment of the case.

• Journal of Audiology & Otology
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• v.25 no.1
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• pp.49-54
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• 2021

Type II mucopolysaccharidosis (MPS II) commonly known as Hunter syndrome, is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, which in turn causes otorhinolaryngological manifestations, including sensorineural hearing loss (SNHL). Previously, the median survival age of patients with MPS was approximately 13.4 years. However, in the era of enzyme replacement therapy and other multidisciplinary care modalities, the life expectancy has increased. Herein, we report a rare case of an adolescent with MPS II who underwent SNHL treatment with cochlear implantation (CI). Based on unexpected findings of mastoid emissary veins and overgrowth of the vessels around the temporal bone, CI was performed using the transmeatal approach instead of the conventional transmastoid method, to avoid damage to the vessels. The average hearing threshold after CI was 35 dB and no surgical complications were encountered. Adolescent MPS II may present vessel abnormalities, which can reduce the success rate of surgery. In patients with MPS II with SNHL, CI should be performed under careful monitoring of vessel overgrowth. Moreover, with regard to feasibility of CI in adolescent patients with MPS II with SNHL, surgical techniques such as the transmeatal approach should be selected based on adequate assessment of the case.

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.12-16
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• 2021

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase, leading to the accumulation of glycosaminoglycans (GAGs), which affects multiple organs and systems. Current treatments for MPS II include enzyme replacement therapy (ERT) and hematopoietic cell transplantation (HCT) to reduce the accumulation of GAGs. HCT has the potential advantage that donor-derived enzyme-competent cells can provide a continuous secreting source of the enzyme. However, HCT as a treatment for MPS II remains controversial because its effectiveness is unclear, particularly in terms of neurological symptoms. To date, several clinical experiences with HCT in MPS II have been reported. In this paper, we review post-HCT outcomes in the previously published literature and discuss the effects of HCT on each of the clinical signs and symptoms of MPS II.