Malignant Infantile Osteopetrosis & Primary Pulmonary Hypertension: A New Combination?

Kimberly A. Kasow, Carmem Bonfim, Julie Asch, David A. Margolis, Jesse Jenkins, Robert F. Tamburro, Rupert Handgretinger, Edwin M. Horwitz

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Malignant infantile osteopetrosis (MIOP), a rare genetic disorder of the osteoclast, is fatal without hematopoietic stem cell transplantation. Primary pulmonary hypertension (PPH), a rare progressive disorder of the pulmonary circulation, is predominately fatal in the absence of successful therapy. A clinical association between these two disorders has not been recognized anda pathophysiologic link between osteoclast function and pulmonary vascular pressure as a rationale for such an association is not readily apparent. Here, we report five infants with MIOP, without cardiac abnormalities, who were found to have PPH after undergoing stem cell transplantation. We suggest that PPH may be linked to a specific variant of MIOP and recognizing the potential for pulmonary hypertension in children with MIOP may lead to a more rapid diagnosis and life-saving intervention.

Original languageEnglish (US)
Pages (from-to)190-194
Number of pages5
JournalPediatric Blood and Cancer
Issue number2
StatePublished - Feb 2004

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology


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