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Idiopathic juvenile osteoporosis(IJO)

MedGen UID:
120494
•Concept ID:
C0264080
•
Disease or Syndrome
Synonyms: IJO; Juvenile osteoporosis
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0019409
OMIM®: 259750
Orphanet: ORPHA85193

Definition

Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. [from ORDO]

Professional guidelines

PubMed

A Subtrochanteric Femoral Stress Fracture following Bisphosphonate Treatment in an Adolescent Girl.
Boyce AM, Collins MT, Tosi LL, Gafni RI
Horm Res Paediatr 2017;87(1):69-72. Epub 2016 Jul 6 doi: 10.1159/000447425. PMID: 27379824Free PMC Article
Bisphosphonate treatment of pediatric bone disease.
Speiser PW, Clarson CL, Eugster EA, Kemp SF, Radovick S, Rogol AD, Wilson TA; LWPES Pharmacy and Therapeutic Committee
Pediatr Endocrinol Rev 2005 Dec;3(2):87-96. PMID: 16361982

Recent clinical studies

Etiology

Severity of acute phase reaction in children receiving the first dose of zoledronic acid and the impact of the underlying condition: a cross-sectional study.
Nayak S, Rayner L, Mughal Z, McKinney G, Mason A, Wong SC, Padidela R, Chinoy A
Arch Dis Child 2024 Sep 25;109(10):849-853. doi: 10.1136/archdischild-2023-326287. PMID: 38821713
Do Bisphosphonates Alleviate Pain in Children? A Systematic Review.
Celin MR, Simon JC, Krzak JJ, Fial AV, Kruger KM, Smith PA, Harris GF
Curr Osteoporos Rep 2020 Oct;18(5):486-504. doi: 10.1007/s11914-020-00621-3. PMID: 32960409
The risk of bisphosphonate-related osteonecrosis of the jaw in children. A case report and literature review.
Ngan KK, Bowe J, Goodger N
Dent Update 2013 Nov;40(9):733-4, 736-8. doi: 10.12968/denu.2013.40.9.733. PMID: 24386765
Assessment of bone quality by quantitative ultrasound of proximal phalanges of the hand and fracture rate in children and adolescents with bone and mineral disorders.
Baroncelli GI, Federico G, Bertelloni S, Sodini F, De Terlizzi F, Cadossi R, Saggese G
Pediatr Res 2003 Jul;54(1):125-36. Epub 2003 Apr 16 doi: 10.1203/01.PDR.0000069845.27657.EB. PMID: 12700367
Idiopathic juvenile osteoporosis: evidence of normal osteoblast function by 1,25-dihydroxyvitamin D3 stimulation test.
Bertelloni S, Baroncelli GI, Di Nero G, Saggese G
Calcif Tissue Int 1992 Jul;51(1):20-3. doi: 10.1007/BF00296211. PMID: 1393771

Diagnosis

Primary osteoporosis in children.
Tan LO, Lim SY, Vasanwala RF
BMJ Case Rep 2017 Sep 1;2017 doi: 10.1136/bcr-2017-220700. PMID: 28866630Free PMC Article
Idiopathic juvenile osteoporosis.
Lorenc RS
Calcif Tissue Int 2002 May;70(5):395-7. Epub 2002 Apr 29 doi: 10.1007/s00223-001-0045-y. PMID: 11973603
Idiopathic juvenile osteoporosis.
Krassas GE
Ann N Y Acad Sci 2000;900:409-12. doi: 10.1111/j.1749-6632.2000.tb06253.x. PMID: 10818429
Idiopathic juvenile osteoporosis.
Smith R
Am J Dis Child 1979 Sep;133(9):889-91. doi: 10.1001/archpedi.1979.02130090017001. PMID: 474538
Idiopathic juvenile osteoporosis.
Teotia M, Teotia SP, Singh RK
Am J Dis Child 1979 Sep;133(9):894-900. doi: 10.1001/archpedi.1979.02130090022003. PMID: 314235

Therapy

Primary osteoporosis in children.
Tan LO, Lim SY, Vasanwala RF
BMJ Case Rep 2017 Sep 1;2017 doi: 10.1136/bcr-2017-220700. PMID: 28866630Free PMC Article
Bisphosphonate treatment of pediatric bone disease.
Speiser PW, Clarson CL, Eugster EA, Kemp SF, Radovick S, Rogol AD, Wilson TA; LWPES Pharmacy and Therapeutic Committee
Pediatr Endocrinol Rev 2005 Dec;3(2):87-96. PMID: 16361982
Idiopathic juvenile osteoporosis.
Lorenc RS
Calcif Tissue Int 2002 May;70(5):395-7. Epub 2002 Apr 29 doi: 10.1007/s00223-001-0045-y. PMID: 11973603
Idiopathic juvenile osteoporosis.
Teotia M, Teotia SP, Singh RK
Am J Dis Child 1979 Sep;133(9):894-900. doi: 10.1001/archpedi.1979.02130090022003. PMID: 314235
Idiopathic juvenile osteoporosis.
Gooding CA, Ball JH
Radiology 1969 Dec;93(6):1349-50. doi: 10.1148/93.6.1349. PMID: 5363391

Prognosis

Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.
Balasubramanian M, Fratzl-Zelman N, O'Sullivan R, Bull M, Fa Peel N, Pollitt RC, Jones R, Milne E, Smith K, Roschger P, Klaushofer K, Bishop NJ
Am J Med Genet A 2018 Jul;176(7):1578-1586. Epub 2018 May 7 doi: 10.1002/ajmg.a.38830. PMID: 29736964
Idiopathic juvenile osteoporosis--an analysis of the muscle-bone relationship.
Płudowski P, Lebiedowski M, Olszaniecka M, Marowska J, Matusik H, Lorenc RS
Osteoporos Int 2006;17(11):1681-90. Epub 2006 Sep 2 doi: 10.1007/s00198-006-0183-1. PMID: 16951909
Idiopathic juvenile osteoporosis: experience of twenty-one patients.
Smith R
Br J Rheumatol 1995 Jan;34(1):68-77. doi: 10.1093/rheumatology/34.1.68. PMID: 7881843
Idiopathic juvenile osteoporosis.
Teotia M, Teotia SP, Singh RK
Am J Dis Child 1979 Sep;133(9):894-900. doi: 10.1001/archpedi.1979.02130090022003. PMID: 314235

Clinical prediction guides

Severity of acute phase reaction in children receiving the first dose of zoledronic acid and the impact of the underlying condition: a cross-sectional study.
Nayak S, Rayner L, Mughal Z, McKinney G, Mason A, Wong SC, Padidela R, Chinoy A
Arch Dis Child 2024 Sep 25;109(10):849-853. doi: 10.1136/archdischild-2023-326287. PMID: 38821713
Pamidronate treatment stimulates the onset of recovery phase reducing fracture rate and skeletal deformities in patients with idiopathic juvenile osteoporosis: comparison with untreated patients.
Baroncelli GI, Vierucci F, Bertelloni S, Erba P, Zampollo E, Giuca MR
J Bone Miner Metab 2013 Sep;31(5):533-43. Epub 2013 Apr 3 doi: 10.1007/s00774-013-0438-9. PMID: 23549954
Idiopathic juvenile osteoporosis--an analysis of the muscle-bone relationship.
Płudowski P, Lebiedowski M, Olszaniecka M, Marowska J, Matusik H, Lorenc RS
Osteoporos Int 2006;17(11):1681-90. Epub 2006 Sep 2 doi: 10.1007/s00198-006-0183-1. PMID: 16951909
Mineral metabolism and calcitriol therapy in idiopathic juvenile osteoporosis.
Saggese G, Bertelloni S, Baroncelli GI, Perri G, Calderazzi A
Am J Dis Child 1991 Apr;145(4):457-62. doi: 10.1001/archpedi.1991.02160040119019. PMID: 2012031
Idiopathic juvenile osteoporosis.
Teotia M, Teotia SP, Singh RK
Am J Dis Child 1979 Sep;133(9):894-900. doi: 10.1001/archpedi.1979.02130090022003. PMID: 314235

Recent systematic reviews

Do Bisphosphonates Alleviate Pain in Children? A Systematic Review.
Celin MR, Simon JC, Krzak JJ, Fial AV, Kruger KM, Smith PA, Harris GF
Curr Osteoporos Rep 2020 Oct;18(5):486-504. doi: 10.1007/s11914-020-00621-3. PMID: 32960409

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