Idiopathic Juvenile Osteoporosis

Charles A. Gooding; John H. Ball

doi:10.1148/93.6.1349

Idiopathic Juvenile Osteoporosis

Annals of the New York Academy of Sciences ◽

10.1111/j.1749-6632.2000.tb06253.x ◽

2006 ◽

Vol 900 (1) ◽

pp. 409-412 ◽

Cited By ~ 36

Author(s):

G. E. KRASSAS

Keyword(s):

Idiopathic Juvenile Osteoporosis

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Idiopathic juvenile osteoporosis: a cross-sectional single-centre experience with bone histomorphometry and quantitative computed tomography

Pediatric Rheumatology ◽

10.1186/1546-0096-11-6 ◽

2013 ◽

Vol 11 (1) ◽

pp. 6 ◽

Cited By ~ 11

Author(s):

Justine Bacchetta ◽

Katherine Wesseling-Perry ◽

Vicente Gilsanz ◽

Barbara Gales ◽

Renata C Pereira ◽

...

Keyword(s):

Computed Tomography ◽

Bone Histomorphometry ◽

Quantitative Computed Tomography ◽

Single Centre ◽

Cross Sectional ◽

Idiopathic Juvenile Osteoporosis ◽

Single Centre Experience

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Type I Collagen Biosynthesis by Skin Fibroblasts from Patients with Idiopathic Juvenile Osteoporosis

Clinical Science ◽

10.1042/cs0890069 ◽

1995 ◽

Vol 89 (1) ◽

pp. 69-73 ◽

Cited By ~ 7

Author(s):

Andrew E. Pocock ◽

Martin J. O. Francis ◽

Roger Smith

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

The Other ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Unrelated Control ◽

Type Iii ◽

Collagen Peptides ◽

Idiopathic Juvenile Osteoporosis ◽

Osteogenesis Imperfecta Type I

1. Skin fibroblast lines were cultured from nine patients who had the features of idiopathic juvenile osteoporosis, six relatives, five unrelated control subjects and three unrelated patients with osteogenesis imperfecta type I. Some patients with idiopathic juvenile osteoporosis were adults whose previous osteoporosis was in remission. Two patients with idiopathic juvenile osteoporosis were siblings and one patient with idiopathic juvenile osteoporosis had a daughter with severe osteogenesis imperfecta (type III). 2. The ratio of type III to type I collagen, synthesized by fibroblasts, was increased in two of the patients with osteogenesis imperfecta type I and in the daughter with osteogenesis imperfecta type III, but was normal in all the other patients with idiopathic juvenile osteoporosis and the other relatives. 3. Radiolabelled collagen was digested by cyanogen bromide and separated on SDS-PAGE. Unreduced collagen peptides migrated normally, except those from both the two siblings with idiopathic juvenile osteoporosis. In these two lines, abnormal migration suggested the presence of collagen I mutations. 4. The secretion of synthesized collagen by these two idiopathic juvenile osteoporosis lines and two others was reduced to only 43–45% as compared with a line from a 13-year-old control subject, which was defined as 100%. The three osteogenesis imperfecta type I lines secreted 18–37%, the other five idiopathic juvenile osteoporosis lines secreted 57–75%, the relatives (including the daughter with severe osteogenesis imperfecta) secreted 49–115% and the controls secreted 69–102%. 5. We conclude that qualitative abnormalities of type I collagen associated with a reduction in total secreted collagen synthesis may occur in a minority of patients with idiopathic juvenile osteoporosis; these patients could represent a subset of patients with this disorder.

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Idiopathic juvenile osteoporosis in a child: a four-year follow-up with review of literature

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2021-0233 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Aashima Dabas ◽

Rakhi Malhotra ◽

Ravindra Kumar ◽

Rajesh Khadgawat

Keyword(s):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Underlying Disease ◽

Bone Fragility ◽

Management Approach ◽

Primary Osteoporosis ◽

Disease States ◽

Idiopathic Juvenile Osteoporosis ◽

Density Lipoprotein Receptor

Abstract Objectives Childhood osteoporosis is an uncommon condition that usually develops secondary to underlying disease states. Idiopathic juvenile osteoporosis or early onset osteoporosis is a rare cause of primary osteoporosis in childhood associated with mutations in “bone fragility” genes. Case presentation The index case presented with upper back pain and was detected to have multiple vertebral fractures. Further workup for the cause revealed a homozygous benign mutation in low-density lipoprotein receptor-related protein 5, which was also detected in the mother who remained asymptomatic till presentation. The child was successfully treated with intravenous zoledronate. Conclusions The case report describes the management approach and four-year follow-up of the child.

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