دورية أكاديمية
Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.
| العنوان: | Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study. |
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| المؤلفون: | Köse E; Ankara University, Faculty of Medicine, Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey. Electronic address: enginkose85@hotmail.com., Kasapkara ÇS; Ankara Yıldırım Beyazıt University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara Bilkent City Hospital, Ankara, Turkey., İnci A; Gazi University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Yıldız Y; Hacettepe University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Sürücü Kara İ; Ankara University, Faculty of Medicine, Pediatric Metabolism, Ankara, Turkey., Kahraman AB; Hacettepe University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Tümer L; Gazi University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Dursun A; Hacettepe University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Eminoğlu FT; Ankara University, Faculty of Medicine, Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey. |
| المصدر: | European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104927. Date of Electronic Publication: 2024 Feb 19. |
| نوع المنشور: | Multicenter Study; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Amsterdam : Elsevier, c2005- |
| مواضيع طبية MeSH: | alpha-Mannosidosis*/diagnosis , alpha-Mannosidosis*/genetics , alpha-Mannosidosis*/drug therapy , Intellectual Disability*/drug therapy , Hearing Loss*/genetics , Deafness*, Child ; Male ; Female ; Humans ; Enzyme Replacement Therapy |
| مستخلص: | Background: Alpha mannosidosis is an autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variants in the MAN2B1 gene. It manifests with clinical features, including intellectual disability, hearing impairment, coarse facial appearance, skeletal anomalies, immunodeficiency, central nervous system involvement, psychiatric comorbidities, corneal opacity, and hepatosplenomegaly. This multicenter study assesses the long-term outcomes of individuals diagnosed with alpha-mannosidosis, examining demographic, clinical, laboratory, and molecular characteristics. Method: Sixteen patients diagnosed with alpha-mannosidosis who presented to four pediatric metabolic units were included in the study. The patients' medical records were analyzed and data on demographics, clinical presentation and laboratory findings were recorded. Results: Of the 16 patients (6 females, 10 males) with alpha mannosidosis included in the study, the mean age at the time of diagnosis was 79.4 ± 56.1 (16-208) months, and the mean diagnosis delay time was 57.9 ± 51.9 (4-181) months. Hearing loss was the primary manifestation found in seven out of 16 patients (43.8%), followed by speech delay in 37.8%. On clinical follow-up, 87.5% of patients experienced recurrent infections, mainly in the upper respiratory tract, with 12 requiring the use of a hearing aid. Hepatomegaly was found in six out of 13 patients who received abdominal ultrasonography; two out of 12 patients who underwent echocardiography were found to have mitral valve prolapse (16.6%). Upon neurological evaluation, five patients displayed no neurological manifestation. Delayed language development was observed in nine (56.3%) patients, intellectual disability in eight (50%) patients, and hypertonicity was identified in one (6.3%) patient with the severe form of the disease. Homozygous c.2477C>A (p.Ser826Ter) and homozygous c.967G>A (p.Glu323Lys) novel variants were detected in four patients and one patient, respectively. The most common variant observed in the study was c.2477C>A (p.Ser826Ter). Conclusion: The present study identified two novel MAN2B1 variants. An evaluation of the long-term outcome of alpha-mannosidosis, in which the early initiation of enzyme replacement therapy (ERT) may lead to a better clinical outcome, can permit a better analysis of the effect of ERT on the natural progression of the disease. Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024 The Author(s). Published by Elsevier Masson SAS.. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Alpha-mannosidosis; Hearing impairment; Long-term follow-up; MAN2B1 gene |
| تواريخ الأحداث: | Date Created: 20240221 Date Completed: 20240319 Latest Revision: 20240319 |
| رمز التحديث: | 20240319 |
| DOI: | 10.1016/j.ejmg.2024.104927 |
| PMID: | 38382588 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1878-0849 |
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| DOI: | 10.1016/j.ejmg.2024.104927 |