Deniz Kor1, Fatma Derya Bulut2, Sebile Kılavuz3, Berna Şeker Yılmaz4, Burcu Köşeci2, Esra Kara2, Ömer Kaya5, Sibel Başaran6, Gülşah Seydaoğlu7, Neslihan Önenli Mungan2. 1. Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Çukurova University, Adana, Turkey. dozonur@yahoo.com. 2. Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Çukurova University, Adana, Turkey. 3. Division of Pediatric Metabolism and Nutrition, Van Research and Training Hospital, Van, Turkey. 4. Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK. 5. Department of Radiology, Faculty of Medicine, Çukurova University, Adana, Turkey. 6. Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Çukurova University, Adana, Turkey. 7. Department of Biostatistics, Faculty of Medicine, Çukurova University, Adana, Turkey.
Abstract
INTRODUCTION: This study aimed to evaluate the relationship between clinical findings, height and weight standard deviation scores, 25-hydroxyvitamin D3 (25(OH)D3) level, and dual-energy X-ray absorptiometry (DXA) results in patients diagnosed with mucopolysaccharidosis (MPS), where effective current treatments such as enzyme replacement therapy (ERT) can be accessed. MATERIALS AND METHODS: 25(OH)D3 level was measured in 126 patients with MPS (17 with MPS I, 14 with MPS II, 18 with MPS III, 33 with MPS IVA, and 44 with MPS VI; 24-524 months). DXA was performed in 45 of these patients (8 with MPS I, 4 with MPS II, 4 with MPS III, 12 with MPS IVA, and 17 with MPS VI; 62-197 months; all patients were under 18 when DXA was performed) to assess bone mineral density (BMD) of the lumbar spine. RESULTS: In total, 67.5% patients had a short stature, and 50% of them were underweight for their age. Of the patients, 13.5% were immobile, 28.6% had 25(OH)D3 deficiency, and 30.2% had an insufficient level of 25(OH)D3. BMD z score of 45 patients was - 2.5 ± 1.7. In 40% patients, it was < - 2. However, after correction for height-for-age z score (HAZ), HAZ-adjusted BMD z score was - 0.1 ± 0.9. In 2.2% patients, it was < - 2. CONCLUSION: The low BMD z score prevalence reported with DXA was misleadingly higher in children with MPS and short stature. To prevent exposure to unnecessary antiresorptive treatments in these children, the effect of severe short stature and bone geometry on DXA measurements should be considered; further studies on bone health are warranted.
INTRODUCTION: This study aimed to evaluate the relationship between clinical findings, height and weight standard deviation scores, 25-hydroxyvitamin D3 (25(OH)D3) level, and dual-energy X-ray absorptiometry (DXA) results in patients diagnosed with mucopolysaccharidosis (MPS), where effective current treatments such as enzyme replacement therapy (ERT) can be accessed. MATERIALS AND METHODS: 25(OH)D3 level was measured in 126 patients with MPS (17 with MPS I, 14 with MPS II, 18 with MPS III, 33 with MPS IVA, and 44 with MPS VI; 24-524 months). DXA was performed in 45 of these patients (8 with MPS I, 4 with MPS II, 4 with MPS III, 12 with MPS IVA, and 17 with MPS VI; 62-197 months; all patients were under 18 when DXA was performed) to assess bone mineral density (BMD) of the lumbar spine. RESULTS: In total, 67.5% patients had a short stature, and 50% of them were underweight for their age. Of the patients, 13.5% were immobile, 28.6% had 25(OH)D3 deficiency, and 30.2% had an insufficient level of 25(OH)D3. BMD z score of 45 patients was - 2.5 ± 1.7. In 40% patients, it was < - 2. However, after correction for height-for-age z score (HAZ), HAZ-adjusted BMD z score was - 0.1 ± 0.9. In 2.2% patients, it was < - 2. CONCLUSION: The low BMD z score prevalence reported with DXA was misleadingly higher in children with MPS and short stature. To prevent exposure to unnecessary antiresorptive treatments in these children, the effect of severe short stature and bone geometry on DXA measurements should be considered; further studies on bone health are warranted.
Authors: E Michael Lewiecki; Catherine M Gordon; Sanford Baim; Mary B Leonard; Nicholas J Bishop; Maria-Luisa Bianchi; Heidi J Kalkwarf; Craig B Langman; Horatio Plotkin; Frank Rauch; Babette S Zemel; Neil Binkley; John P Bilezikian; David L Kendler; Didier B Hans; Stuart Silverman Journal: Bone Date: 2008-08-15 Impact factor: 4.398
Authors: Babette S Zemel; Heidi J Kalkwarf; Vicente Gilsanz; Joan M Lappe; Sharon Oberfield; John A Shepherd; Margaret M Frederick; Xiangke Huang; Ming Lu; Soroosh Mahboubi; Thomas Hangartner; Karen K Winer Journal: J Clin Endocrinol Metab Date: 2011-09-14 Impact factor: 5.958
Authors: Daniel J Rowan; Shunji Tomatsu; Jeffrey H Grubb; Adriana M Montaño; William S Sly Journal: J Inherit Metab Dis Date: 2012-09-13 Impact factor: 4.982
Authors: Craig F Munns; Nick Shaw; Mairead Kiely; Bonny L Specker; Tom D Thacher; Keiichi Ozono; Toshimi Michigami; Dov Tiosano; M Zulf Mughal; Outi Mäkitie; Lorna Ramos-Abad; Leanne Ward; Linda A DiMeglio; Navoda Atapattu; Hamilton Cassinelli; Christian Braegger; John M Pettifor; Anju Seth; Hafsatu Wasagu Idris; Vijayalakshmi Bhatia; Junfen Fu; Gail Goldberg; Lars Sävendahl; Rajesh Khadgawat; Pawel Pludowski; Jane Maddock; Elina Hyppönen; Abiola Oduwole; Emma Frew; Magda Aguiar; Ted Tulchinsky; Gary Butler; Wolfgang Högler Journal: Horm Res Paediatr Date: 2016-01-08 Impact factor: 2.852