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Successful second haploidentical SCT in osteopetrosis

Bone Marrow Transplantation volume 46, pages 1021–1022 (2011)Cite this article

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Infantile osteopetrosis (OP), a rare, inherited, life-threatening disease that causes significant morbidity and mortality, is characterized by insufficient osteoclast activity causing defective bone resorption and a marked increase in bone mass. Affected children present with failure to thrive, macrocephaly, hydrocephaly, cranial nerve deficits leading to blindness or deafness, micrognathia, small thorax, hepatosplenomegaly and hypocalcemia. Up to 75% of patients develop anemia and/or thrombocytopenia.1, 2 A number of different genes responsible for the defective function of mature osteoclasts (TCIRG1, CLCN7, OSTM1, CAII and PLEKHM1) or their failure to differentiate (RANK and RANKL) have been recognized so far, and other genetic defects are still not identified.3 The single curative treatment is allogeneic hematopoietic SCT (HSCT), which causes engraftment of macrophage-derived donor source osteoclasts, resulting in remodeling of bone and restoration of normal hematopoiesis.4

Pretransplant conditioning consisted of fludarabine 180 mg/kg, busulfex 16 mg/kg, thiotepa 10 mg/kg and Campath 1H 1.2 mg/kg. Peripheral stem cells were collected from his haploidentical mother after priming with G-CSF and positive CD34+ selection with a yield of 44 × 106 CD34+ and 1.3 × 105 CD3+. The child was transplanted with 1/4 of this amount and the rest of the treated cells were frozen in three aliquots.

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Authors and Affiliations

  1. Department of Pediatric Hematology-Oncology, Hadassah Hebrew University Medical Center, Jerusalem, Israel

    P Stepensky & M Weintraub

  2. Department of Pediatrics, University of Ulm, Ulm, Germany

    A S Schulz & G Lahr

  3. Department of Medical Imaging, Hadassah Hebrew University Medical Center, Jerusalem, Israel

    N Simanovsky

  4. Department of Pediatrics, Hadassah Hebrew University Medical Center, Jerusalem, Israel

    R Brooks

  5. Department of Bone Marrow Transplantation, Hadassah Hebrew University Medical Center, Jerusalem, Israel

    S Samuel, R Or & I Resnick

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  1. P Stepensky
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  2. A S Schulz
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Correspondence to I Resnick.

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Stepensky, P., Schulz, A., Lahr, G. et al. Successful second haploidentical SCT in osteopetrosis. Bone Marrow Transplant 46, 1021–1022 (2011). https://doi.org/10.1038/bmt.2010.223

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