دورية أكاديمية
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients
| العنوان: | Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients |
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| المؤلفون: | Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia‐Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami |
| المصدر: | JIMD Reports, Vol 56, Iss 1, Pp 82-94 (2020) |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| المجموعة: | LCC:Diseases of the endocrine glands. Clinical endocrinology LCC:Genetics |
| مصطلحات موضوعية: | chronic renal failure, Fabry disease, GLA mutation, hypertrophic cardiomyopathy, late onset, stroke, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470 |
| الوصف: | Abstract Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of FD in India. This study evaluates the clinical and molecular spectrum of Indian patients with FD. In this multicentric study involving 10 tertiary referral centers in India, we analyzed the clinical course and genotype of 54 patients from 37 families. Family screening identified 19 new patients (35%) from 12 index cases. Then, 33 GLA gene variants were identified in 49/54 (90.7%) which included 11 novel and 22 known pathogenic variants. Of the 54 patients in our cohort, 40 patients had “classical” and 10 patients had a “nonclassical” presentation. The symptoms and signs included kidney dysfunction in 38/54 (70.3%), neuropathic pain in 34/54 (62.9%), left ventricular hypertrophy in 22/49 (44.8%) and stroke in 5/54 (9.2%). Female heterozygotes were 10/54 (18.5%) of whom 2 were index cases. There was a significant delay in reaching the diagnosis of 11.7 years. Enzyme replacement therapy was initiated in 28/54 (51.8%) patients with significant improvement of neuropathic pain and gastrointestinal symptoms. This study highlights the clinical presentation and mutational spectrum of FD in India and suggests that family screening and screening of high‐risk groups (hypertrophic cardiomyopathy, idiopathic chronic renal failure and cryptogenic stroke) could be the most cost‐effective strategies for early identification of FD. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2192-8312 |
| العلاقة: | https://doaj.org/toc/2192-8312Test |
| DOI: | 10.1002/jmd2.12156 |
| الوصول الحر: | https://doaj.org/article/1fc4e82c88a64b728007b9797e36a37dTest |
| رقم الانضمام: | edsdoj.1fc4e82c88a64b728007b9797e36a37d |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 21928312 |
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| DOI: | 10.1002/jmd2.12156 |