• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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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.

• Clinical and Experimental Reproductive Medicine
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• 제46권4호
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• pp.206-210
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• 2019

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea.

• Journal of Interdisciplinary Genomics
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• 제1권1호
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• pp.6-9
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• 2019

In this report, the phenotypes of three patients from two families with mucopolysaccharidosis type II (MPS II) are compared: a novel variant and recombinant variant of IDS gene. The results of urine in patients showed a pronounced increase in glycosaminoglycan excretion with decreased iduronate-2-sulfatase enzyme activity in leukocyte, leading to a diagnosis of MPS II. A patient has a novel variant with 1 bp small insertion, c.1224_1225insC in exon 9, which caused frameshifts with a premature stop codon, and two patients have a recombination variant, c.418+495_1006+1304del, leading to the loss of exons 4, 5, 6, and 7 in genomic DNA, which is relatively common in Korean patients. They had different phenotypes even in the same mutation. The patients have now been enzyme replacement therapy with a significant decrease in glycosaminoglycan excretion. Further study on residual enzyme activity, as well as experience with more cases, may shed light on the relationship between phenotypes in MPS II and gene mutations.

• 대한청각학회지
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• 제25권1호
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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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• 제25권1호
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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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• 제5권1호
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• pp.17-21
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• 2021

Hunter syndrome or mucopolysaccharidosis type II (MPS-II) (OMIM 309900) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulfatase. This enzyme is responsible for the catabolism of the following two different glycosaminoglycans (GAGs): dermatan sulfate and heparan sulfate. The lysosomal accumulation of these GAG molecules results in cell, tissue, and organ dysfunction. Patients can be broadly classified as having one of the following two forms of MPS II: a severe form and an attenuated form. In the severe form of the disease, signs and symptoms (including neurological impairment) develop in early childhood, whereas in the attenuated form, signs and symptoms develop in adolescence or early adulthood, and patients do not experience significant cognitive impairment. The involvement of the skeletal-muscle system is because of essential accumulated GAGs in joints and connective tissue. MPS II has many clinical features and includes two recognized clinical entities (mild and severe) that represent two ends of a wide spectrum of clinical severities. However, enzyme replacement therapy is likely to have only a limited impact on bone and joint disease based on the results of MPS II studies. The aim of this study was to review the involvement of joints in MPS II.

• Journal of mucopolysaccharidosis and rare diseases
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• 제2권1호
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• pp.32-32
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• 2016

• 대한유전성대사질환학회지
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• 제15권3호
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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.

• Pediatric Infection and Vaccine
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• 제29권2호
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• pp.70-76
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• 2022

코로나바이러스감염증-19 (COVID-19)의 임상 양상은 무증상부터 급성 호흡곤란 증후군에 이르기까지 다양하다. 점액 다당류증(mucopolysaccharidosis) 2형은글라이코스아미노글라이칸(glycosaminoglycan)의 일종인 헤파란 황산염(heparan sulfate)과 더마탄 황산염(dermatan sulfate)의 분해를 촉매하는 효소 결핍에 의해 상기 물질이 리소좀(lysosome)에 축적되는 질환으로 전신 침범, 특히 호흡기침범을 특징으로 한다. 따라서 박테리아나 바이러스에 의한 호흡기 감염은 예후에 치명적일 수 있다. 현재 점액 다당류증 환자에서 제 2형 중증급성호흡기증후군 코로나 바이러스(SARS-CoV-2) 감염 후의 임상 양상에 대한 보고는 매우 드물고, 이에 점액 다당류증 2형으로 효소대체요법을 받고 있던 환자에서 상기 바이러스 감염 후의 임상 양상에 대해 보고하고 관련 문헌에 대해 고찰하고자 한다. 16세 남아로 가족간 전파로 코로나바이러스감염증이 발생하였다. 콧물, 기침, 가래 등 호흡기 증상이 관찰되었다. 발열이나 산소요구도 증가는 없었으며 심박수, 호흡수, 산소 포화도는 정상 범위였고 혈액검사결과에서 백혈구 감소증이 관찰되었다. 흉부 방사선 사진에서 폐렴 소견은 보이지 않았다. 보존적 치료와 격리만으로 증상이 호전되었다. 경미한 임상 양상의 원인으로 전구 물질의 축적으로 인해 바이러스에게 불리한 숙주의 세포 환경, 바이러스와의 상호작용에 관여하는 단백질을 암호화하는 유전자 발현의 특정방향으로의 변화가 제시되고 있다. 또한 점액 다당류증 환자에서 증가된 혈청 헤파란 황산염이 SARS-CoV-2 스파이크 단백질과 숙주 세포의 상호작용에 필수적인 세포 표면의 헤파란 황산염과 경쟁하여 SARS-CoV-2의 세포 내 침투로부터 보호한다는 가설도 있다. 향후 더 많은 사례를 통해 점액 다당류증 등의 리소좀 축적질환에서 코로나바이러스감염증의 발현 양상에 대한 연구가 필요하다.

• Journal of mucopolysaccharidosis and rare diseases
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• 제2권1호
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• pp.1-4
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• 2016

Mucolipidosis type II (MLII; MIM#252500) and type III alpha/beta (MLIIIA; MIM#252600) very rare lysosomal storage disease cause by reduced enzyme activity of GlcNAc-1-phosphotransferase. ML II is caused by a total or near total loss of GlcNAc-1-phosphotransferase activity whether enzymatic activity in patient with ML IIIA is reduced. While ML II and ML III share similar clinical features, including skeletal abnormalities, ML II is the more severe in terms of phenotype. ML III is a much milder disorder, being characterized by latter onset of clinical symptoms and slower progressive course. GlcNAc-1-phosphotransferase is encoded by two genes, GNPTAB and GNPTG, mutations in GNPTAB give rise to ML II or ML IIIA. To date, more than 100 different GNPTAB mutations have been reported, causing either ML II or ML IIIA. Despite development of new diagnostic approach and understanding of disease mechanism, there is no specific treatment available for patients with ML II and ML IIIA yet, only supportive and symptomatic treatment is indicated.