Long-term follow-up of two children with a variant of mild autosomal recessive osteopetrosis undergoing bone marrow transplantation
| العنوان: | Long-term follow-up of two children with a variant of mild autosomal recessive osteopetrosis undergoing bone marrow transplantation |
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| المؤلفون: | Edoardo Lanino, Alberto Garaventa, G Morreale, Sandro Dallorso, Giorgio Dini, Maura Faraci, L Manfredini, Claudiani F, E Calcagno, R De Marco, M Oddone, F. De Stefano, R Floris |
| المصدر: | Scopus-Elsevier |
| بيانات النشر: | Springer Science and Business Media LLC, 2000. |
| سنة النشر: | 2000 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, Visual acuity, Medullary cavity, Biopsy, medicine.medical_treatment, Visual Acuity, Osteoclasts, Bone resorption, medicine, Humans, Bone Resorption, Child, Bone Marrow Transplantation, Transplantation, business.industry, Osteopetrosis, Hematology, Bisphosphonate, medicine.disease, Magnetic Resonance Imaging, Osteochondrodysplasia, Surgery, Radiography, Treatment Outcome, surgical procedures, operative, medicine.anatomical_structure, Calcitonin, Child, Preschool, Hypercalcemia, Calcium, Bone marrow, medicine.symptom, business, Follow-Up Studies |
| الوصف: | Malignant autosomal recessive (AR) osteopetrosis represents an absolute indication for bone marrow transplantation (BMT). Over the last 15 years, almost 100 BMTs for osteopetrosis have been reported. The median age at transplant of most patients is 4 months. Very few cases of mild AR osteopetrosis have been described. Here, we report the good outcome of two cases of mild AR osteopetrosis with a follow-up of 5 and 6 years, respectively, after an HLA-identical sibling transplant undergone at 5 and 12 years of age, respectively. At the time of BMT, severe visual impairment was present in both children. Bone biopsy demonstrated hypermineralization with virtual obliteration of the medullary spaces, rare microfoci of hematopoiesis and marked deficiency in osteoclastic activity. Successful engraftment was complicated by hypercalcemia, controlled by a combination of bisphosphonate, phosphate infusions, vigorous hydration and calcitonin. Following BMT, radiological and histological findings showed extensive bone resorption with marked augmentation of the osteoclasts in normalized marrow. No improvement was observed in visual acuity, despite complete remodeling of skeletal abnormalities. We conclude that allogeneic BMT is the only chance of curing mild AR osteopetrosis. |
| تدمد: | 1476-5365 0268-3369 |
| DOI: | 10.1038/sj.bmt.1702491 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9c963260b6391fa6906f7dd924352b5 https://doi.org/10.1038/sj.bmt.1702491 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....a9c963260b6391fa6906f7dd924352b5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14765365 02683369 |
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| DOI: | 10.1038/sj.bmt.1702491 |