Impact on bone microarchitecture and failure load in a patient with type I Gaucher disease who switched from Imiglucerase to Eliglustat
| Autor: | Steven K. Boyd, Karamjot Sidhu, Aneal Khan |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty Bone disease Imiglucerase MRI Magnetic resonance imaging HR-pQCT High-resolution peripheral quantitative computed tomography Case Report Disease Gaucher disease LSC Least significant change LS Lumbar spine ICGG International Collaborative Gaucher Group GD Gaucher Disease 03 medical and health sciences 0302 clinical medicine Endocrinology Genetics DXA Dual-energy x-ray absorptiometry Medicine BMD Bone mineral density Substrate reduction therapy Young adult Quantitative computed tomography lcsh:QH301-705.5 Molecular Biology FN Femoral neck lcsh:R5-920 0303 health sciences medicine.diagnostic_test business.industry 030305 genetics & heredity Finite element analysis GD1 Gaucher Disease (type I) Enzyme replacement therapy SRT Substrate reduction therapy medicine.disease High-resolution peripheral quantitative computed tomography lcsh:Biology (General) lcsh:Medicine (General) business Substrate replacement therapy 030217 neurology & neurosurgery Eliglustat medicine.drug ERT Enzyme replacement therapy |
| Zdroj: | Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100606-(2020) |
| ISSN: | 2214-4269 |
| Popis: | Gaucher disease (GD; OMIM 230800 ) is a lysosomal storage disorder caused by a deficiency in acid beta-glucosidase as a result of mutation in the GBA gene. Type 1 GD (GD1) is the most common form and its clinical manifestations include severe hematological, visceral and bone disease. The goal of disease-modifying treatments for GD1 is to reduce substrate storage and hence toxicity from the disease. The two common therapeutic routes for managing GD1 are enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). These therapies have shown to improve hematological and visceral aspects of the disease. However, quantitative investigations into how these therapies may help prevent or improve the progression of bone disease is limited. This case involves a patient diagnosed with GD1 in childhood, who began ERT in young adulthood. Following over 20 years of treatment with ERT, the patient switched to SRT. This case report examined the novel application of high-resolution peripheral quantitative computed tomography (HR-pQCT) in a patient who switched from ERT to SRT. Using bone microarchitecture measurements from HR-pQCT, we applied finite element analysis techniques to calculate the failure load which estimates the resistance to fracture. Over the course of one year following the switch from ERT to SRT therapy, failure load improved in the patient's lower limb. In conclusion, failure load can be computed in the short term in a patient who made a switch from ERT to SRT. Further exploration of failure load in study design to look at interventions that impact bone quality in GD may be considered. |
| Databáze: | OpenAIRE |
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