Hematopoietic Stem Cell Transplant for Osteopetrosis (TCIRG1) Mutation
Using Thiotepa Treosulfan Fludarabine Conditioning: Brief Report
Osteopetrosis (OP) is rare metabolic bone disease characterized by
impaired osteoclastic bone resorption. It is inherited by autosomal
dominant or recessive mode, with variable penetrance, resulting in
variable severity. It can present with cytopenia’s, extramedullary
hematopoiesis and neurological features like nerve compression.
Hematopoietic stem cell transplant (HSCT) is the curative treatment for
severe cases (Malignant Infantile Osteopetrosis- MIOT variant) however
literature to support the same is very sparse. We report 3 patients with
OP, two of which were successfully treated with HSCT using TTF (Thiotepa
Treosulfan Fludarabine) conditioning. HSCT is curative in these patients
with better outcome when done early.