Successful second haploidentical SCT in osteopetrosis

Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning

“…Three patients were transplanted from a matched unrelated donor (MUD), two patients were transplanted from a mismatched unrelated donor (one locus mismatch), and three additional children underwent transplantation from mismatched family donors using CD34 + T‐cell depletion. Of these, one patient was transplanted from his haploidentical mother, demonstrated progressive graft loss, and was successfully retransplanted from the same donor,; the second was a 6‐year‐old girl, who underwent haploidentical transplantation from her mother but unfortunately died from primary graft failure; and the third was successfully transplanted from her aunt.…”

Osteopetrosis infantil maligna

“…El trasplante de células madres hematopoyéticas en forma precoz es el único tratamiento efectivo en detener la evolución de la enfermedad, reservándose para las formas más graves 2,3,[7][8][9][10] . Permite corregir las anomalías óseas, hematológicas e inmunes, al proporcionar células madre capaces de originar osteoclastos maduros normofuncionantes 8,10 .…”

“…La OIM es un trastorno debido a defectos en la reabsorción ósea 6 , radicando su patogenia en la alteración en la diferenciación o función osteoclástica, lo que impide la normal resorción y remodelación ósea 1,2,4,[6][7][8][9] . Esto origina un exceso de sustancia osteoide, dando lugar a una disminución progresiva del espacio medular óseo, sitio donde se desarrolla la hematopoyesis 6,8,10 .…”

“…Las radiografías revelan esclerosis ósea difusa 4 . La reducción paulatina de la producción de sangre determina la aparición de anemia, plaquetopenia, leucocitos inmaduros y eritroblastos en sangre periférica, con la consiguiente hepatoesplenomegalia progresiva por hematopoyesis extramedular compensatoria 2,4,8,9 .…”

Transplantation of Haploidentical TcRaß-Depleted Hematopoietic Cells Allows for Optimal Timing and Sustained Correction of the Metabolic Defect in Children With Infantile Osteopetrosis

“…HCT in MIOP using a parental haploidentical donor is seemingly attractive because the parents typically are readily available. A number of reports have described haploidentical transplantation (Haplo‐HCT) using CD34‐enriched mobilized peripheral blood stem cells (PBSCs) . However, complications such as delayed hematological and immunological recovery, graft rejection, or the need for a stem cell boost were frequently observed.…”