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Treatment

Authoring team

Adult autosomal dominant osteopetrosis requires no treatment unless complications arise that require it. No specific medical treatment exists for the adult type. (1)

In autosomal recessive osteopetrosis, haematopoietic precursors, haematopoietic stem cell transplantation (HSCT) is the treatment of choice, allowing improved bone remodelling along with reversal of pancytopenia and extramedullary haematopoiesis. (2)

Reference:

  1. Landa J, Margolis N, Di Cesare P; Orthopaedic management of the patient with osteopetrosis. J Am Acad Orthop Surg. 2007 Nov;15(11):654-62.
  2. Penna S, Villa A, Capo V; Autosomal recessive osteopetrosis: mechanisms and treatments. Dis Model Mech. 2021 May 1;14(5)

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