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Information Journal Paper

Title

THE OUTCOME OF INFANTILE ONSET POMPE DISEASE IN SOUTH OF IRAN

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  0-0

Abstract

 Background: Infantile Onset Pompe Disease (IOPD) is a rare autosomal recessive neuromuscular disorder. It is associated with cardiomegaly, hypotonia, paresis, and death in the first year of life. Since 2006, following the use of Alglucosidase alfa as Enzyme Replacement Therapy (ERT), the patients’ survival is improved to a noticeable extent.Objectives: The purpose of this study is to examine the outcome of IOPD patients in South of Iran and the degree of responsiveness to ERT.Patients and Methods: All patients who were diagnosed with IOPD on the bases of clinical symptoms, and enzyme assay on dried blood spot, were included in the study; and were followed up regarding cardiac function, locomotor activity, and cognition.Results: Six patients with IOPD were identified. All these six patients suffered from Hypertrophic Cardiomyopathy (HCM). Four (67%) of them also had generalized hypotonia. Three patients expired during the first weeks due to severe respiratory infection. One of them also got involved with Acute Cardiopulmonary Failure while receiving the fifth dose of ERT; and expired. However, the remaining two patients had a significant improvement after the maximum of 117 weeks of following up both cardiac and locomotor findings. These two patients were the same patients who showed cardiac symptoms from the beginning but did not have generalized hypotonia.Conclusions: Although ERT has a significant effect on enhancing the survival of IOPD patients, it should be associated with meticulous heart-respiratory cares during the first months of treatment and preventing infection especially nosocomial infections.

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    APA: Copy

    MORAVEJ, HOSSEIN, KARAMIZADEH, ZOHRE, & PARAND, MARYAM. (2016). THE OUTCOME OF INFANTILE ONSET POMPE DISEASE IN SOUTH OF IRAN. IRANIAN JOURNAL OF PEDIATRICS, 26(1), 0-0. SID. https://sid.ir/paper/689297/en

    Vancouver: Copy

    MORAVEJ HOSSEIN, KARAMIZADEH ZOHRE, PARAND MARYAM. THE OUTCOME OF INFANTILE ONSET POMPE DISEASE IN SOUTH OF IRAN. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2016;26(1):0-0. Available from: https://sid.ir/paper/689297/en

    IEEE: Copy

    HOSSEIN MORAVEJ, ZOHRE KARAMIZADEH, and MARYAM PARAND, “THE OUTCOME OF INFANTILE ONSET POMPE DISEASE IN SOUTH OF IRAN,” IRANIAN JOURNAL OF PEDIATRICS, vol. 26, no. 1, pp. 0–0, 2016, [Online]. Available: https://sid.ir/paper/689297/en

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