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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Editorial Board Member: Darendeliler, Feyza / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Lanes M. D., Roberto / Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / LaFranchi, Stephen H. / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Wabitsch, Martin / Werther, George / Zadik, Zvi

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Scarcity Despite Wealth: Osteopetrorickets

Fatma Demirel1 / Ihsan Esen1 / Bahattin Tunc2 / Betul Tavil2

1Department of Pediatric Endocrinology, Ankara Children's Health and Diseases Hematology Oncology Hospital, Ankara, Turkey

2Department of Pediatric Hematology Oncology, Ankara Children's Health and Diseases Hematology Oncology Hospital, Ankara, Turkey

Corresponding author: Ihsan Esen,

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 23, Issue 9, Pages 931–934, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem.2010.149, December 2010

Publication History

Published Online:
2010-12-22

ABSTRACT

Infantile malignant osteopetrosis is a rare and genetically autosomal recessive disease characterized by osteoclast malfunction. Decreased osteoclast-mediated bone resorption may be inadequate to maintain a normal serum calcium-phosphorus balance in the extracellular fluid. Consequently, despite markedly positive total body calcium balance, patients with osteopetrosis paradoxically could develop rickets. The concurrence of osteopetrosis and rickets has been termed “osteopetrorickets”. We report here a 3-month-old boy who was diagnosed with osteopetrorickets with clinical features. Although osteopetrorickets is defined as a rare paradoxical feature of infantile malignant osteopetrosis in some studies, it seems to be more common than was previously known. Coexistence of rickets and osteopetrosis may have adverse effects on clinical response to stem cell transplantation. Therefore, a diagnosis of rickets must be considered in patients with osteopetrosis and then for better results, prior to the SCT, the rickets should be completely treated.

KEY WORDS: osteopetrosis; osteopetrorickets; rickets

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[1]
Florian Barvencik, Ingo Kurth, Till Koehne, Tobias Stauber, Jozef Zustin, Konstantinos Tsiakas, Carmen F Ludwig, F Timo Beil, Jan M Pestka, Michael Hahn, Rene Santer, Chayarop Supanchart, Uwe Kornak, Andrea Del Fattore, Thomas J Jentsch, Anna Teti, Ansgar Schulz, Thorsten Schinke, and Michael Amling
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[2]
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