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- W4310731685 abstract "Most patients with osteopetrosis (OPT) can be causally and curatively treated with allogeneic hematopoietic stem cell transplantation (HSCT) because osteoclasts are derived from the HSC. However, HSCT is contraindicated in some forms of OPT, namely OPT with neurodegeneration (in all patients with OSTM1 and about half of patients with CLCN7 mutations) and OPT caused by an osteoblast defect (patients with RANKL mutations). HSCT for OPT risks serious side effects, such as transplant failure, venous occlusive disease, pulmonary hypertension, and hypercalcemic crises. Nevertheless, the success rate of HSCT has improved significantly in recent decades. This applies, in particular, to HSCT from non-HLA compatible (haploidentical) donors. Therefore, nowadays an HSCT can be discussed for intermediate OPT forms. After a successful HSCT, most patients have very good quality of life, but about two-thirds are visually impaired, and in rarer cases show motor and neurological disabilities. Early diagnosis, further improvements in transplantation procedures, and advances to improve quality-of-life after transplantation are challenges for the future." @default.
- W4310731685 created "2022-12-16" @default.
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- W4310731685 date "2023-02-01" @default.
- W4310731685 modified "2023-10-02" @default.
- W4310731685 title "Hematopoietic stem cell transplantation, a curative approach in infantile osteopetrosis" @default.
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- W4310731685 doi "https://doi.org/10.1016/j.bone.2022.116634" @default.
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