Hematopoietic Stem Cell Transplantation in Infantile Osteopetrosis: Lessons from a Resource-Limited Setting

Area of Science:

• Pediatric Hematology
• Genetics
• Bone Biology

Background:

• Infantile Osteopetrosis (IO) is a rare genetic bone disorder caused by defective osteoclast function.
• Reduced bone resorption leads to increased bone density and associated complications.
• Hematopoietic stem cell transplantation (HSCT) is the only curative option for IO.

Purpose of the Study:

• To evaluate the outcomes of HSCT in infantile osteopetrosis patients.
• To identify common complications and factors influencing survival.

Main Methods:

• Retrospective analysis of 10 infantile osteopetrosis cases undergoing HLA-matched HSCT.
• Myeloablative conditioning with Fludarabine and Busulfan was used.
• Data on complications, chimerism, overall survival (OS), and disease-free survival (DFS) were collected.

Main Results:

• Overall survival and disease-free survival were 80%.
• Common complications included cyclosporine-induced hypertension (100%), neutropenic fever (90%), and mucositis (60%).
• Mixed chimerism was observed in 80% of cases but did not impact outcomes.

Conclusions:

• Early HSCT is a viable treatment for infantile osteopetrosis, improving quality of life.
• Careful management of post-transplant complications is crucial for successful outcomes.
• Further research into genetic mutations (TCIRG1, RANK) and their impact on HSCT is warranted.