Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey
| Autor: | Handan Turan-Dizdar, Umut Arslan, Ayşegül Tokatlı, Deniz Dogru, Burhanettin Gönüldaş, Mustafa Kılıç, Sibel Kadayifcilar, Hatice-Serap Sivri, Aydan Genç, Cemalettin Aksoy, Sema Savci, Turgay Coşkun, Didem Yücel-Yılmaz, Ali Dursun, Dursun Alehan, Rıza Köksal Özgül, Mehmet Karaca, Melda Saglam |
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| Přispěvatelé: | [Kilic, Mustafa] Sami Ulus Children Hosp, Div Metab, Babur Cad 44, TR-06080 Ankara, Turkey -- [Dursun, Ali -- Coskun, Turgay -- Tokatli, Aysegul -- Ozgul, Riza K. -- Yucel-Yilmaz, Didem -- Sivri, Hatice-Serap] Hacettepe Univ, Children Hosp, Div Metab, Ankara, Turkey -- [Karaca, Mehmet] Aksaray Univ, Fac Sci & Arts, Dept Biol, Aksaray, Turkey -- [Dogru, Deniz] Hacettepe Univ, Div Pediat Pulmonol, Children Hosp, Ankara, Turkey -- [Alehan, Dursun] Hacettepe Univ, Div Pediat Cardiol, Children Hosp, Ankara, Turkey -- [Kadayifcilar, Sibel] Hacettepe Univ, Dept Ophthalmol, Fac Med, Ankara, Turkey -- [Genc, Aydan -- Turan-Dizdar, Handan] Hacettepe Univ, Div Audiol, Dept Ear Nose Throat, Fac Med, Ankara, Turkey -- [Gonuldas, Burhanettin] Hacettepe Univ, Dept Ear Nose Throat, Fac Med, Ankara, Turkey -- [Savci, Sema -- Saglam, Melda] Hacettepe Univ, Dept Physiotheraphy & Rehabil, Fac Hlth Sci, Ankara, Turkey -- [Aksoy, Cemalettin] Hacettepe Univ, Dept Orthopaed & Traumatol, Fac Med, Ankara, Turkey -- [Arslan, Umut] Hacettepe Univ, Dept Biostat, Fac Med, Ankara, Turkey, Ozgul, Riza Koksal -- 0000-0002-0283-635X, Mustafa -- 0000-0002-1401-5233, Sabire Yazıcı Fen Edebiyat Fakültesi |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Adult Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Adolescent Turkey N-Acetylgalactosamine-4-Sulfatase Urinary system genotype Mucopolysaccharidosis type VI Gastroenterology Dermatan sulfate 03 medical and health sciences chemistry.chemical_compound Young Adult Gene Frequency Internal medicine Genotype Genetics medicine Humans Enzyme Replacement Therapy Chondroitin sulfate Respiratory system Child Genetics (clinical) Genetic Association Studies mucopolysaccharidosis type VI Mucopolysaccharidosis VI business.industry Infant Newborn nutritional and metabolic diseases Infant Enzyme replacement therapy Lysosomal Storage Diseases 030104 developmental biology chemistry Child Preschool outcome Quality of Life Female business |
| Zdroj: | American journal of medical genetics. Part A. 173(11) |
| ISSN: | 1552-4833 |
| Popis: | WOS: 000413425400010 PubMed: 28884960 Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD) characterized by a chronic, progressive course with multiorgan involvement. In our study, clinical, biochemical, molecular findings, and response to enzyme replacement therapy (ERT) for at least 6 months were evaluated in 20 patients with MPS VI. Treatment effects on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, visual and auditory changes, joints' range of motions, endurance tests and changes in urinary glycosaminoglycan excretions, before and after ERT were analyzed. ERT caused increased physical endurance and decreased urinary dermatan sulfate/chondroitin sulfate ratios. Changes in growth parameters, cardiac, respiratory, visual, auditory findings, and joint mobility were not significant. All patients and parents reported out an increased quality of life, which were not correlated with clinical results. The most prevalent mutation was p.L321P, accounting for 58.8% of the mutant alleles and two novel mutations (p.G79E and p.E390K) were found. ERT was a safe but expensive treatment for MPS VI, with mild benefits in severely affected patients. Early treatment with ERT is mandatory before many organs and systems are involved. |
| Databáze: | OpenAIRE |
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