Osteogenesis imperfecta

被引：109

作者：

Glorieux, Francis H. ^{[1
]}

机构：

[1] McGill Univ, Shriners Hosp Children, Genet Unit, Montreal, PQ H3G 1A6, Canada

来源：

BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY | 2008年 / 22卷 / 01期

关键词：

osteoporosis; bisphosphonates; type I collagen; osteogenesis imperfecta;

D O I：

10.1016/j.berh.2007.12.012

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

Osteogenesis Imperfecta is a heritable disorder characterized by bone fragility and low bone mass, with a wide spectrum of clinical expression. This review gives an update on its classification, the recent developments in the understanding of its pathophysiological mechanisms, and the current status of bisphosphonate therapy. Other therapeutic approaches and future directions of research are briefly discussed.

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页码：85 / 100

页数：16

相关论文

共 101 条

[1]

Intravenous neridronate in adults with osteogenesis imperfecta [J].

Adami, S ;

Gatti, D ;

Colapietro, F ;

Fracassi, E ;

Braga, V ;

Rossini, M ;

Tatò, L .

JOURNAL OF BONE AND MINERAL RESEARCH, 2003, 18 (01) :126-130

[2]

HOMOZYGOUS OSTEOGENESIS IMPERFECTA UNLINKED TO COLLAGEN-I GENES [J].

AITCHISON, K ;

OGILVIE, D ;

HONEYMAN, M ;

THOMPSON, E ;

SYKES, B .

HUMAN GENETICS, 1988, 78 (03) :233-236

[3]

Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis [J].

Antoniazzi, F ;

Bertoldo, F ;

Mottes, M ;

Valli, M ;

Sirpresi, S ;

Zamboni, G ;

Valentini, R ;

Tato, L .

JOURNAL OF PEDIATRICS, 1996, 129 (03) :432-439

[4]

Intravenous pamidronate treatment in children with moderate to severe osteogenesis imperfecta: assessment of indices of dual-energy X-ray absorptiometry and bone metabolic markers during the first year of therapy [J].

Arikoski, P ;

Silverwood, B ;

Tillmann, V ;

Bishop, NJ .

BONE, 2004, 34 (03) :539-546

[5]

Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta [J].

Åström, E ;

Söderhäll, S .

ARCHIVES OF DISEASE IN CHILDHOOD, 2002, 86 (05) :356-364

[6]

Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17 [J].

Bank, RA ;

Robins, SP ;

Wijmenga, C ;

Breslau-Siderius, LJ ;

Bardoel, AFJ ;

Van der Sluijs, HA ;

Pruijs, HEH ;

TeKoppele, JM .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (03) :1054-1058

[7]

BEIGHTON P, 1985, CLIN GENET, V28, P69

[8]

Marrow stromal stem cells [J].

Bianco, P ;

Robey, PG .

JOURNAL OF CLINICAL INVESTIGATION, 2000, 105 (12) :1663-1668

[9]

Osteogenesis imperfecta calls for caution-second letter [J].

N.J. Bishop .

Nature Medicine, 1999, 5 (5) :466-466

[10]

The mineralization density of iliac crest bone from children with osteogenesis imperfecta [J].

Boyde, A ;

Travers, R ;

Glorieux, FH ;

Jones, SJ .

CALCIFIED TISSUE INTERNATIONAL, 1999, 64 (03) :185-190

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