Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Harvard

APA

CBE

MLA

Vancouver

Author

Hepp, Nicola ; Frederiksen, Anja Lisbeth ; Dunø, Morten ; Jørgensen, Niklas Rye ; Langdahl, Bente ; Hove, Hanne B ; Vedtofte, Poul ; Hindsø, Klaus ; Jensen, Jens-Erik Beck. / Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia. I: Calcified Tissue International. 2019 ; Bind 105, Nr. 6. s. 681-686.

Bibtex

@article{1c878da241e040b6ba00cd6643b6e33d,
title = "Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia",
abstract = "Pycnodysostosis (PYCD) is a rare recessive inherited skeletal disease, characterized by short stature, brittle bones, and recurrent fractures, caused by variants in the Cathepsin K encoding gene that leads to impaired osteoclast-mediated bone resorption. Hypophosphatasia (HPP) is a dominant or recessive inherited condition representing a heterogeneous phenotype with dental symptoms, recurrent fractures, and musculoskeletal problems. The disease results from mutation(s) in the tissue non-specific alkaline phosphate encoding gene with reduced activity of alkaline phosphatase and secondarily defective mineralization of bone and teeth. Here, we present the first report of a patient with the coexistence of PYCD and HPP. This patient presented typical clinical findings of PYCD, including short stature, maxillary hypoplasia, and sleep apnoea. However, the burden of disease was caused by over 30 fractures, whereupon most showed delayed healing and non-union. Biochemical analysis revealed suppressed bone resorption and low bone formation capacity. We suggest that the coexistence of impaired bone resorption and mineralization may explain the severe bone phenotype with poor fracture healing.",
keywords = "Bone healing, CTSK, Fracture, Hypophosphatasia, Pycnodysostosis",
author = "Nicola Hepp and Frederiksen, {Anja Lisbeth} and Morten Dun{\o} and J{\o}rgensen, {Niklas Rye} and Bente Langdahl and Hove, {Hanne B} and Poul Vedtofte and Klaus Hinds{\o} and Jensen, {Jens-Erik Beck}",
year = "2019",
month = "12",
doi = "10.1007/s00223-019-00605-1",
language = "English",
volume = "105",
pages = "681--686",
journal = "Calcified Tissue International",
issn = "0171-967X",
publisher = "Springer New York LLC",
number = "6",

}

RIS

TY - JOUR

T1 - Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

AU - Hepp, Nicola

AU - Frederiksen, Anja Lisbeth

AU - Dunø, Morten

AU - Jørgensen, Niklas Rye

AU - Langdahl, Bente

AU - Hove, Hanne B

AU - Vedtofte, Poul

AU - Hindsø, Klaus

AU - Jensen, Jens-Erik Beck

PY - 2019/12

Y1 - 2019/12

N2 - Pycnodysostosis (PYCD) is a rare recessive inherited skeletal disease, characterized by short stature, brittle bones, and recurrent fractures, caused by variants in the Cathepsin K encoding gene that leads to impaired osteoclast-mediated bone resorption. Hypophosphatasia (HPP) is a dominant or recessive inherited condition representing a heterogeneous phenotype with dental symptoms, recurrent fractures, and musculoskeletal problems. The disease results from mutation(s) in the tissue non-specific alkaline phosphate encoding gene with reduced activity of alkaline phosphatase and secondarily defective mineralization of bone and teeth. Here, we present the first report of a patient with the coexistence of PYCD and HPP. This patient presented typical clinical findings of PYCD, including short stature, maxillary hypoplasia, and sleep apnoea. However, the burden of disease was caused by over 30 fractures, whereupon most showed delayed healing and non-union. Biochemical analysis revealed suppressed bone resorption and low bone formation capacity. We suggest that the coexistence of impaired bone resorption and mineralization may explain the severe bone phenotype with poor fracture healing.

AB - Pycnodysostosis (PYCD) is a rare recessive inherited skeletal disease, characterized by short stature, brittle bones, and recurrent fractures, caused by variants in the Cathepsin K encoding gene that leads to impaired osteoclast-mediated bone resorption. Hypophosphatasia (HPP) is a dominant or recessive inherited condition representing a heterogeneous phenotype with dental symptoms, recurrent fractures, and musculoskeletal problems. The disease results from mutation(s) in the tissue non-specific alkaline phosphate encoding gene with reduced activity of alkaline phosphatase and secondarily defective mineralization of bone and teeth. Here, we present the first report of a patient with the coexistence of PYCD and HPP. This patient presented typical clinical findings of PYCD, including short stature, maxillary hypoplasia, and sleep apnoea. However, the burden of disease was caused by over 30 fractures, whereupon most showed delayed healing and non-union. Biochemical analysis revealed suppressed bone resorption and low bone formation capacity. We suggest that the coexistence of impaired bone resorption and mineralization may explain the severe bone phenotype with poor fracture healing.

KW - Bone healing

KW - CTSK

KW - Fracture

KW - Hypophosphatasia

KW - Pycnodysostosis

UR - http://www.scopus.com/inward/record.url?scp=85072025101&partnerID=8YFLogxK

U2 - 10.1007/s00223-019-00605-1

DO - 10.1007/s00223-019-00605-1

M3 - Journal article

VL - 105

SP - 681

EP - 686

JO - Calcified Tissue International

JF - Calcified Tissue International

SN - 0171-967X

IS - 6

ER -

ID: 57916845