Disturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Pycnodysostosis is an autosomal recessive disease caused by a gene mutation leading cathepsin K deficiency. Pathological fractures of the long bones are common, but guidelines on fracture treatment in these patients are still lacking. We have treated 5 fractures in 2 pediatric pycnodysostosis patients. We hypothesize that pycnodysostosis patients have an incomplete remodeling process in fracture healing because of cathepsin K deficiency. Therefore, to minimize the role of endochondral bone formation (indirect) after a fracture, it seems prudent to strive for direct bone healing (intramembranous) instead of indirect bone healing. Open reduction with internal fixation should be the goal.
LanguageEnglish
Pages373-377
JournalJournal of Orthopaedics
Volume16
Issue number5
DOIs
Publication statusPublished - 2019

Cite this

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title = "Disturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients",
abstract = "Pycnodysostosis is an autosomal recessive disease caused by a gene mutation leading cathepsin K deficiency. Pathological fractures of the long bones are common, but guidelines on fracture treatment in these patients are still lacking. We have treated 5 fractures in 2 pediatric pycnodysostosis patients. We hypothesize that pycnodysostosis patients have an incomplete remodeling process in fracture healing because of cathepsin K deficiency. Therefore, to minimize the role of endochondral bone formation (indirect) after a fracture, it seems prudent to strive for direct bone healing (intramembranous) instead of indirect bone healing. Open reduction with internal fixation should be the goal.",
author = "Simran Grewal and {\"O}zg{\"u}r Kilic and Savci-Heijink, {C. Dilara} and Peter Kloen",
year = "2019",
doi = "10.1016/j.jor.2019.03.022",
language = "English",
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Disturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients. / Grewal, Simran; Kilic, Özgür; Savci-Heijink, C. Dilara; Kloen, Peter.

In: Journal of Orthopaedics, Vol. 16, No. 5, 2019, p. 373-377.

Research output: Contribution to journalArticleAcademicpeer-review

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N2 - Pycnodysostosis is an autosomal recessive disease caused by a gene mutation leading cathepsin K deficiency. Pathological fractures of the long bones are common, but guidelines on fracture treatment in these patients are still lacking. We have treated 5 fractures in 2 pediatric pycnodysostosis patients. We hypothesize that pycnodysostosis patients have an incomplete remodeling process in fracture healing because of cathepsin K deficiency. Therefore, to minimize the role of endochondral bone formation (indirect) after a fracture, it seems prudent to strive for direct bone healing (intramembranous) instead of indirect bone healing. Open reduction with internal fixation should be the goal.

AB - Pycnodysostosis is an autosomal recessive disease caused by a gene mutation leading cathepsin K deficiency. Pathological fractures of the long bones are common, but guidelines on fracture treatment in these patients are still lacking. We have treated 5 fractures in 2 pediatric pycnodysostosis patients. We hypothesize that pycnodysostosis patients have an incomplete remodeling process in fracture healing because of cathepsin K deficiency. Therefore, to minimize the role of endochondral bone formation (indirect) after a fracture, it seems prudent to strive for direct bone healing (intramembranous) instead of indirect bone healing. Open reduction with internal fixation should be the goal.

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