Boletín Médico del Hospital Infantil de México (Jul 2021)

Hematopoietic stem cell transplantation in a patient with osteopetrosis and mutation in CLCN7: long-term follow-up

  • José F. Gaytán-Morales,
  • Iván Castorena-Villa,
  • Fredenet O. Mendoza-Camargo,
  • Dolores C. Cortés-Flores,
  • Yazmin A. Gómez-Domíguez,
  • Pamela D. Montenegro-Chahar,
  • Paulina García-Maldonado,
  • Israel Parra-Ortega

DOI
https://doi.org/10.24875/BMHIM.20000105
Journal volume & issue
Vol. 78, no. 3

Abstract

Read online

Background: Osteopetrosis is a rare hereditary bone dysplasia characterized by insufficient osteoclast activity that results in increased bone mineral density. Hematopoietic stem cell transplantation (HSCT) can reverse skeletal abnormalities and restore hematopoiesis. Case report: We present the case of a 3-year and 2-month-old male patient with the diagnosis of osteopetrosis. The patient underwent allogeneic HSCT (Allo-HSCT) using 100% compatible bone marrow from a related donor and received a myeloablative conditioning regimen and a CD34 cell dose (4.7 × 107/kg). In the early post-transplant, frequent complications such as pneumonitis, hypercalcemia, and hyperphosphatemia ocurred. With a suitable granulocytic graft and chimerism of 100%, it was considered a successful transplant. However, the patient showed a delayed platelet graft treated with a platelet-stimulating factor for 6 months. The patient is currently disease-free, outpatient follow-up, with no data on graft-versus-host disease, and no progressive neurological damage. Conclusions: Osteopetrosis is a childhood disease that requires clinical suspicion and early diagnosis. HSCT is necessary at an early age to prevent disease progression and sensorineural, hematological, and endocrinological functions damage that can lead to death.

Keywords