Idursulfase enzyme replacement therapy in an adult patient with severe Hunter syndrome having a novel mutation of iduronate-2-sulfatase gene

Christianto, Antonius; Watanabe, Hiromi; Nakajima, Takashi; Inazu, Toshiyuki

doi:10.1016/j.cca.2013.04.022

Cited by 7 publications

(7 citation statements)

References 22 publications

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“…18 However, studies denoted that MPS II patients, irrespective of the age of presentation and CNS involvement, should receive ERT that may attenuate the disease's severity. 19 This case depicts a dilemma for the patient, his family members and the physicians. His family and the physician have faced that lack of testing facility led to delayed diagnosis at an older age, which hampers the capability of available treatment to work as the irreversible changes have already occurred.…”

Section: Discussionmentioning

confidence: 99%

Limited diagnostic facilities impending the therapeutic approach of Mucopolysaccharidosis in Bangladesh: A case report

Pulock

Pinky

Hasan

2022

Preprint

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Section: Discussionmentioning

confidence: 99%

Limited diagnostic facilities impending the therapeutic approach of Mucopolysaccharidosis in Bangladesh: A case report

Pulock

Pinky

Hasan

2022

Preprint

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“…(3) Effects in pebbling skin lesions [26,27] Case report (Srinivas SM et al, 2017) [51] No clinical study after 8 years (4) Effects in hyperactivity, aggressive behavior, language functioning, and social interaction [28] No clinical study after 7 years No clinical study after 7 years [30,31] Case report Scarpa et al, 2017 Bonanni et al, 2014 [57,58] No clinical study after 8 years 7ERT effects in vision [32,33] Case report (Yamanishi R et al, 2019) [59] No clinical study after 5 years (8) ERT effect in autoimmune anemia, thrombocytopenia, or thrombocytopenic purpura [34,35] Case report (Alcántara-Ortigoza et al, 2016) [60] No clinical study after 8 years (9) Botulinum Toxin for the treatment of equinus deformity with an ERT [36] No new citations No clinical study after 8 years (10) ERT effects in involuntary movements (chorea) [37] No new citations No prospective study after 12 years (11) Early ERT effects in bone abnormalities [38] Cohort study (Manara R [39][40][41][42][43][44][45][46][47][48][49]. ** This study analyzed two novelties proposed by previous case reports.…”

Section: Secondary Outcomesmentioning

confidence: 99%

“…The case reports excluded were: Lampe et al 2014, Biviana et al 2014, Christiano et al 2013, Sato et al 2013, Tajima et al 2013, Hoffmann B. et al 2011, Tylki-Szymanska et al 2012, Pérez-Calvo et al 2011, Tchan M.C. et al 2011, Westhoff M. et al 2011, and Galán Gómez E. et al 2008 [ 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 ]. ** This study analyzed two novelties proposed by previous case reports.…”

Section: Figurementioning

confidence: 99%

“…Novelties proposed in case reports of ERT in MPS-II patients and in clinical studies citing these case reports. References [ 16 , 17 , 18 , 19 , 20 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , …”

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confidence: 99%

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The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)

Sampayo-Cordero

Miguel-Huguet

Malfettone

et al. 2020

IJERPH

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Background: Case reports are usually excluded from systematic reviews. Patients with rare diseases are more dependent on novel individualized strategies than patients with common diseases. We reviewed and summarized the novelties reported by case reports in mucopolysaccharidosis type II (MPS-II) patients treated with enzyme replacement therapy (ERT). Methods: We selected the case reports included in a previous meta-analysis of patients with MPS-II treated with ERT. Later clinical studies evaluating the same topic of those case reports were reported. Our primary aim was to summarize novelties reported in previous case reports. Secondary objectives analyzed the number of novelties evaluated in subsequent clinical studies and the time elapsed between the publication of the case report to the publication of the clinical study. Results: We identified 11 innovative proposals in case reports that had not been previously considered in clinical studies. Only two (18.2%) were analyzed in subsequent nonrandomized cohort studies. The other nine novelties (81.8%) were analyzed in later case reports (five) or were not included in ulterior studies (four) after more than five years from their first publication. Conclusions: Case reports should be included in systematic reviews of rare disease to obtain a comprehensive summary of the state of research and offer valuable information for healthcare practitioners.

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“…The classical clinical picture of mucopolysaccharidoses does not comprise thrombocytopenia. Nevertheless, less increasing number of case reports describing thrombocytopenia in patients with Hunter and Sanfilippo syndromes [1][2][3][4][5][6][7][8][9] and even in a child with unspecified type of MPS [10] have appeared in recent years. Some of the articles described clinical manifestations of thrombocytopenia, including serious complications: intracranial hemorrhage, recurrent epistaxis, melena and anemia, extradural hemorrhage following ventriculoperitoneal shunt insertion, intraoperative bleeding during adenoidectomy, epistaxis, and skin hemorrhages [1,3,6,7,8,10].…”

Section: Introductionmentioning

confidence: 99%

Assumption of heparin-induced thrombocytopenia in mucopolysaccharidoses

Osipova

Кузенкова

2021

jidhealth

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Background: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases, resulted from glycosaminoglycans’ breakdown failure (GAGs). The study aims to determine the presence of thrombocytopenia, its prevalence, clinical implication, and correlation with the types of MPSs and with the types of glycosaminoglycans storage. Methods: A retrospective cross-sectional study of complete blood count data was conducted among 108 children with a confirmed diagnosis of MPS in the National Medical Research Center for Children's Health, Moscow, Russian Federation. STATISTICA 10 (Stat Soft, Inc. 1984-2011) was used for statistical analysis. A p-value of ≤0.05 was considered significant. Results: The median age of children was 65 [IQR: 41; 102] months, range: 3 – 102 months. The male to female ratio was 3:1. The prevalence of fluctuating or persistent thrombocytopenia in all children with MPS was 19.0%. Thrombocytopenia occurred in patients with MPS I (14.0%), II (19.0%), and III (31.0%). Neither of the patients with MPS IV nor VI demonstrated low platelet count. There was a non-significant predominance (P=0.068) of thrombocytopenia frequency in patients with heparan sulfate storage (22.0%) compared with patients without heparan sulfate burden (0%). Conclusion: Routine checkups of patients with MPSs must include complete blood count with platelet measurement. Cases of thrombocytopenia that requiring treatment, immunomodulatory/ immunosuppressive therapy should be considered. Further research is needed to look for the laboratory confirmation of autoimmune variants of HIT in patients with MPS I, II, III.

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Idursulfase enzyme replacement therapy in an adult patient with severe Hunter syndrome having a novel mutation of iduronate-2-sulfatase gene

Cited by 7 publications

References 22 publications

Limited diagnostic facilities impending the therapeutic approach of Mucopolysaccharidosis in Bangladesh: A case report

Limited diagnostic facilities impending the therapeutic approach of Mucopolysaccharidosis in Bangladesh: A case report

The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)

Assumption of heparin-induced thrombocytopenia in mucopolysaccharidoses

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