Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair

Grant, Nathan; Sohn, Young Bae; Ellinwood, N. Matthew; Okenfuss, Ericka; Mendelsohn, Bryce A.; Lynch, Leslie E.; Braunlin, Elizabeth; Harmatz, Paul; Eisengart, Julie B.

doi:10.1016/j.ymgmr.2022.100845

Cited by 9 publications

(6 citation statements)

References 55 publications

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“…Обоим детям ФЗТ была начата через 1 мес после постановки диагноза. Через 10 лет после начала ФЗТ у старшего брата наблюдались тяжелые нейрокогнитивные нарушения, он нуждался в постоянном уходе, а младший брат имел значительно менее выраженные клинические проявления и более высокое качество жизни [11]. Вместе с тем, как и в представленном нами описании, у старшего пациента снизились количество респираторных заболеваний, отитов, тяжелых бронхообструктивных нарушений, проявления выраженного синдрома апноэ сна, тяжелого поражения сердечно-сосудистой системы.…”

Section: Discussionunclassified

“…Кроме того, у обоих детей в описании N. Grant и соавт. имелись инверсия сна, а также постепенно прогрессирующее нарушение когнитивного развития [11]. В клиническом случае, приведенном нами, у пациента отмечались более тяжелая неврологическая симптоматика, двигательные нарушения, эпилепсия, что, как мы предполагаем, связано с более поздним началом ФЗТ идурсульфазой и более тяжелым клиническим состоянием ребенка на момент инициации этой терапии.…”

Section: Discussionunclassified

“…В клиническом случае, приведенном нами, у пациента отмечались более тяжелая неврологическая симптоматика, двигательные нарушения, эпилепсия, что, как мы предполагаем, связано с более поздним началом ФЗТ идурсульфазой и более тяжелым клиническим состоянием ребенка на момент инициации этой терапии. Вместе с тем после начала ФЗТ у нашего пациента, как и у пациентов в работе [11], отмечена нормализация концентрации ГАГ в моче.…”

Section: Discussionunclassified

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Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case

Журкова

Вашакмадзе

Mikhaylova

et al. 2023

Vopr. sovr. pediatr.

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Background. Mucopolysaccharidosis type II (MPS II) is a rare hereditary disease from the group of lysosomal storage diseases, with progressive course. There is effective enzyme replacement therapy (ERT) for this disease, it prevents the development of severe complications and improves patients’ quality of life. Long-term follow-up of health changes in individuals on ERT is required for evaluating the treatment impact on disease progression and eventually on the quality of life of the patient and his family. Clinical case description. Results of 14-year-long follow-up of the patient with MPS II who was the first patient on ERT with idursulfase in Russia are presented. Improvement of growth, decrease in ENT-organs infections frequency, liver and spleen sizes decrease, general stabilization, no progression in cardiovascular and respiratory events, normal levels of glycosaminoglycans in urine are shown. Conclusion. Long-term therapy with idursulfase in severe MPS II stabilizes the patient’s somatic condition, prevents the development of severe complications in cardiovascular and respiratory systems, improves the quality of life of the patient and his family. Urinary glycosaminoglycans level decrease is the important indicator of the therapy efficacy along with overall patient's somatic state.

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Section: Discussionunclassified

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Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case

Журкова

Вашакмадзе

Mikhaylova

et al. 2023

Vopr. sovr. pediatr.

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“…Yet, the lack of systematic studies prior to routine use of ERT does not allow for a direct larger scale comparison of airway progression. Furthermore, even earlier initiation of ERT may prove efficacious in preventing airway pathology [ 13 ]. Individuals with MPS II are most often diagnosed due to clinical signs of the disease, with the median age of diagnosis in one study being 3.3 years but newborn screening is needed to improve the age of diagnosis and long-term outcome [ 14 ].…”

Section: Discussionmentioning

confidence: 99%

Airway Findings in Patients with Hunter Syndrome Treated with Intravenous Idursulfase

Vuyst

Jalazo

Tsujimoto³

et al. 2023

JCM

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People with Hunter syndrome are known to be affected by a variety of airway pathologies. Treatment of Hunter syndrome with the enzyme replacement therapy (ERT) idursulfase is now the standard of care. However, it is not known how ERT changes the progression of airway involvement. To evaluate this, we performed a retrospective analysis of bronchoscopies performed on children with Hunter syndrome who were part of intrathecal ERT trials. Findings for airway pathology were extracted from bronchoscopy reports and analyses were performed for cross-sectional and longitudinal changes in airway disease. One-hundred and thirty bronchoscopies from 23 subjects were analyzed. Upper airway disease (adenoid hypertrophy and/or pharyngomalacia) was reported in 93% and 87% of bronchoscopies, respectively. Laryngeal abnormalities were recognized in 46% of cases. There were lower airway (tracheal and or bronchial) findings in 64% of all bronchoscopies and prevalence increased with age. Evaluations over time adjusted for repeat evaluations showed that increasing airway involvement was associated with older age (p = 0.0007) despite ongoing ERT. No association was discovered between age of intravenous ERT initiation and progression of airway disease. Individuals with Hunter syndrome who are receiving intravenous enzyme replacement therapy showed the progression of airways disease supporting the need for regular airway monitoring and intervention.

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“…The clinical symptoms of MPS II develop progressively, and as with other types of MPS disorders, many manifestations may be irreversible once apparent. Previous sibling studies have demonstrated that early treatment may lead to better clinical outcomes [ 17 , 18 ]. Except for cases with a family history of the disease, presymptomatic MPS II can only be detected by newborn screening.…”

Section: Introductionmentioning

confidence: 99%

Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan

Lin

Chang

Lee

et al. 2022

JPM

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Background: Mucopolysaccharidosis II (MPS II) is an X-linked disorder resulting from a deficiency in lysosomal enzyme iduronate-2-sulfatase (IDS), which causes the accumulation of glycosaminoglycans (GAGs) in the lysosomes of many tissues and organs, leading to progressive cellular dysfunction. An MPS II newborn screening program has been available in Taiwan since 2015. The aim of the current study was to collect and analyze the long-term follow-up data of the screen-positive subjects in this program. Methods: From August 2015 to April 2022, 548,624 newborns were screened for MPS II by dried blood spots using tandem mass spectrometry, of which 202 suspected infants were referred to our hospital for confirmation. The diagnosis of MPS II was confirmed by IDS enzyme activity assay in leukocytes, quantitative determination of urinary GAGs by mass spectrometry, and identification of the IDS gene variant. Results: Among the 202 referred infants, 10 (5%) with seven IDS gene variants were diagnosed with confirmed MPS II (Group 1), 151 (75%) with nine IDS gene variants were classified as having suspected MPS II or pseudodeficiency (Group 2), and 41 (20%) with five IDS gene variants were classified as not having MPS II (Group 3). Long-term follow-up every 6 months was arranged for the infants in Group 1 and Group 2. Intravenous enzyme replacement therapy (ERT) was started in four patients at 1, 0.5, 0.4, and 0.5 years of age, respectively. Three patients also received hematopoietic stem cell transplantation (HSCT) at 1.5, 0.9, and 0.6 years of age, respectively. After ERT and/or HSCT, IDS enzyme activity and the quantity of urinary GAGs significantly improved in all of these patients compared with the baseline data. Conclusions: Because of the progressive nature of MPS II, early diagnosis via a newborn screening program and timely initiation of ERT and/or HSCT before the occurrence of irreversible organ damage may lead to better clinical outcomes. The findings of the current study could serve as baseline data for the analysis of the long-term effects of ERT and HSCT in these patients.

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Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair

Cited by 9 publications

References 55 publications

Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case

Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case

Airway Findings in Patients with Hunter Syndrome Treated with Intravenous Idursulfase

Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan

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