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Roth, Christian

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Toppari, Jorma

Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

12 Issues per year


IMPACT FACTOR 2015: 0.912

SCImago Journal Rank (SJR) 2015: 0.493
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Online
ISSN
2191-0251
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Volume 23, Issue 9 (Jan 2010)

Issues

Scarcity Despite Wealth: Osteopetrorickets

Fatma Demirel
  • Department of Pediatric Endocrinology, Ankara Children's Health and Diseases Hematology Oncology Hospital, Ankara, Turkey
/ Ihsan Esen
  • Corresponding author
  • Department of Pediatric Endocrinology, Ankara Children's Health and Diseases Hematology Oncology Hospital, Ankara, Turkey
/ Bahattin Tunc
  • Department of Pediatric Hematology Oncology, Ankara Children's Health and Diseases Hematology Oncology Hospital, Ankara, Turkey
/ Betul Tavil
  • Department of Pediatric Hematology Oncology, Ankara Children's Health and Diseases Hematology Oncology Hospital, Ankara, Turkey
Published Online: 2010-12-22 | DOI: https://doi.org/10.1515/jpem.2010.149

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

About the article

Corresponding author: Ihsan Esen,


Published Online: 2010-12-22

Published in Print: 2010-09-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem.2010.149. Export Citation

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