caa a22 4500 605521166 CHVBK 20210128100738.0 cr unu---uuuuu 210128e20150601xx s 000 0 eng 10.1007/s00223-015-9983-7 doi (NATIONALLICENCE)springer-10.1007/s00223-015-9983-7 Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes [Elektronische Daten] [Roberto Franceschi, Monica Vincenzi, Marta Camilot, Franco Antoniazzi, Anthony Freemont, Judith Adams, Christine Laine, Outi Makitie, M. Mughal] We report clinical findings, bone mineral density (BMD) and bone biopsy data in ten children with features of classic idiopathic juvenile osteoporosis (IJO). We also screened the patients for mutations in LRP5 and LRP6. We found low BMD in the lumbar spine, the hip and distal radius. In the spine and distal radius, the reduction in BMD was more marked in the trabecular compartment. Biopsy confirmed that the trabecular compartment is more severely involved with reduction in bone formation and increase in bone resorption. No mutations in LRP5 and LRP6 could be identified. IJO is likely to be a heterogeneous bone disorder, and next-generation genomic sequencing studies may help reveal causative genes. Springer Science+Business Media New York, 2015 Idiopathic juvenile osteoporosis nationallicence QCT nationallicence Bone biopsy nationallicence LRP5 nationallicence LRP6 nationallicence Franceschi Roberto Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy aut Vincenzi Monica Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy aut Camilot Marta Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy aut Antoniazzi Franco Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy aut Freemont Anthony Department of Osteoarticular Pathology, University of Manchester, Manchester, UK aut Adams Judith Imaging Science and Biomedical Engineering, University of Manchester, Manchester, UK aut Laine Christine Folkhalsan Institute of Genetics, University of Helsinki, Helsinki, Finland aut Makitie Outi Folkhalsan Institute of Genetics, University of Helsinki, Helsinki, Finland aut Mughal M. Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK aut Calcified Tissue International Springer US; http://www.springer-ny.com 96/6(2015-06-01), 575-579 0171-967X 96:6<575 2015 96 223 https://doi.org/10.1007/s00223-015-9983-7 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00223-015-9983-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Franceschi Roberto Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy aut NATIONALLICENCE 700 1- Vincenzi Monica Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy aut NATIONALLICENCE 700 1- Camilot Marta Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy aut NATIONALLICENCE 700 1- Antoniazzi Franco Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy aut NATIONALLICENCE 700 1- Freemont Anthony Department of Osteoarticular Pathology, University of Manchester, Manchester, UK aut NATIONALLICENCE 700 1- Adams Judith Imaging Science and Biomedical Engineering, University of Manchester, Manchester, UK aut NATIONALLICENCE 700 1- Laine Christine Folkhalsan Institute of Genetics, University of Helsinki, Helsinki, Finland aut NATIONALLICENCE 700 1- Makitie Outi Folkhalsan Institute of Genetics, University of Helsinki, Helsinki, Finland aut NATIONALLICENCE 700 1- Mughal M. Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK aut NATIONALLICENCE 773 0- Calcified Tissue International Springer US; http://www.springer-ny.com 96/6(2015-06-01), 575-579 0171-967X 96:6<575 2015 96 223