Faculty Collaboration Database

Malignant infantile osteopetrosis and primary pulmonary hypertension: a new combination? Pediatr Blood Cancer 2004 Feb;42(2):190-4

Date

01/31/2004

Pubmed ID

14752886

DOI

10.1002/pbc.10455

Scopus ID

2-s2.0-0842268426 (requires institutional sign-in at Scopus site)   17 Citations

Abstract

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 predominantly fatal in the absence of successful therapy. A clinical association between these two disorders has not been recognized and a 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.

Author List

Kasow KA, Bonfim C, Asch J, Margolis DA, Jenkins J, Tamburro RF, Handgretinger R, Horwitz EM

Author

David A. Margolis MD Chair, Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Antihypertensive Agents
Female
Humans
Hypertension, Pulmonary
Infant
Male
Osteopetrosis
Stem Cell Transplantation
Treatment Outcome