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



José F. Gaytán-Morales, Servicio de Trasplante de Médula Ósea, Hospital Infantil de México Federico Gómez, Mexico City, Mexico
Iván Castorena-Villa, Servicio de Trasplante de Médula Ósea, Hospital Infantil de México Federico Gómez, Mexico City, Mexico
Fredenet O. Mendoza-Camargo, Servicio de Trasplante de Médula Ósea, Hospital Infantil de México Federico Gómez, Mexico City, Mexico
Dolores C. Cortés-Flores, Servicio de Trasplante de Médula Ósea, Hospital Infantil de México Federico Gómez, Mexico City, Mexico
Yazmin A. Gómez-Domíguez, Servicio de Trasplante de Médula Ósea, Hospital Infantil de México Federico Gómez, Mexico City, Mexico
Pamela D. Montenegro-Chahar, Servicio de Trasplante de Médula Ósea, Hospital Infantil de México Federico Gómez, Mexico City, Mexico
Paulina García-Maldonado, Servicio de Trasplante de Médula Ósea, Hospital Infantil de México Federico Gómez, Mexico City, Mexico
Israel Parra-Ortega, Laboratorio Clínico, Hospital Infantil de México Federico Gómez. Ciudad de México, México


Introduction: 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. Clinical case: 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 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. Conclusion: 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: Osteopetrosis; Hematopoietic stem cell transplantation; Bone marrow stem cell transplant.