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Juvenile Primary Osteoporosis

MedGen UID:
778167
•Concept ID:
C3711559
•
Disease or Syndrome
Synonym: Childhood-Onset Primary Osteoporosis

Professional guidelines

PubMed

Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece.
Papadopoulos I, Bountouvi E, Attilakos A, Gole E, Dinopoulos A, Peppa M, Nikolaidou P, Papadopoulou A
Eur J Pediatr 2019 Mar;178(3):323-329. Epub 2018 Nov 29 doi: 10.1007/s00431-018-3299-3. PMID: 30499050
Efficacy and treatment costs of zoledronate versus pamidronate in paediatric osteoporosis.
Saraff V, Sahota J, Crabtree N, Sakka S, Shaw NJ, Högler W
Arch Dis Child 2018 Jan;103(1):92-94. Epub 2017 Oct 7 doi: 10.1136/archdischild-2017-313234. PMID: 28988216
New Genetic Forms of Childhood-Onset Primary Osteoporosis.
Kämpe AJ, Mäkitie RE, Mäkitie O
Horm Res Paediatr 2015;84(6):361-9. Epub 2015 Oct 31 doi: 10.1159/000439566. PMID: 26517534

Recent clinical studies

Etiology

Bone health in inflammatory bowel disease.
Wei H, Zhao Y, Xiang L
Expert Rev Gastroenterol Hepatol 2023 Jul-Dec;17(9):921-935. Epub 2023 Aug 20 doi: 10.1080/17474124.2023.2248874. PMID: 37589220
Osteoporosis in childhood.
Vierucci F, Saggese G, Cimaz R
Curr Opin Rheumatol 2017 Sep;29(5):535-546. doi: 10.1097/BOR.0000000000000423. PMID: 28582319
Genetic control of bone mass.
Boudin E, Fijalkowski I, Hendrickx G, Van Hul W
Mol Cell Endocrinol 2016 Sep 5;432:3-13. Epub 2015 Dec 30 doi: 10.1016/j.mce.2015.12.021. PMID: 26747728
Primary Osteoporosis.
Arundel P, Bishop N
Endocr Dev 2015;28:162-175. Epub 2015 Jun 12 doi: 10.1159/000381037. PMID: 26138841
A look behind the scenes: the risk and pathogenesis of primary osteoporosis.
Hendrickx G, Boudin E, Van Hul W
Nat Rev Rheumatol 2015 Aug;11(8):462-74. Epub 2015 Apr 21 doi: 10.1038/nrrheum.2015.48. PMID: 25900210

Diagnosis

Bone health in inflammatory bowel disease.
Wei H, Zhao Y, Xiang L
Expert Rev Gastroenterol Hepatol 2023 Jul-Dec;17(9):921-935. Epub 2023 Aug 20 doi: 10.1080/17474124.2023.2248874. PMID: 37589220
Pediatric Osteoporosis.
Steffey CL
Pediatr Rev 2019 May;40(5):259-261. doi: 10.1542/pir.2017-0277. PMID: 31043448
Osteoporosis in childhood.
Vierucci F, Saggese G, Cimaz R
Curr Opin Rheumatol 2017 Sep;29(5):535-546. doi: 10.1097/BOR.0000000000000423. PMID: 28582319
Primary Osteoporosis.
Arundel P, Bishop N
Endocr Dev 2015;28:162-175. Epub 2015 Jun 12 doi: 10.1159/000381037. PMID: 26138841
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

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
Osteoporosis in childhood.
Vierucci F, Saggese G, Cimaz R
Curr Opin Rheumatol 2017 Sep;29(5):535-546. doi: 10.1097/BOR.0000000000000423. PMID: 28582319
Primary Osteoporosis.
Arundel P, Bishop N
Endocr Dev 2015;28:162-175. Epub 2015 Jun 12 doi: 10.1159/000381037. PMID: 26138841
How to manage osteoporosis in children.
Bianchi ML
Best Pract Res Clin Rheumatol 2005 Dec;19(6):991-1005. doi: 10.1016/j.berh.2005.06.006. PMID: 16301193
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

Prognosis

Osteoporotic Fractures and Vertebral Body Reshaping in Children With Glucocorticoid-treated Rheumatic Disorders.
Ward LM, Ma J, Robinson ME, Scharke M, Ho J, Houghton K, Huber A, Scuccimarri R, Barsalou J, Roth J, Shenouda N, Matzinger MA, Lentle B, Jaremko JL, Koujok K, Watanabe Duffy K, Stein R, Sbrocchi AM, Rodd C, Miettunen PM, LeBlanc CMA, Larche M, Jurencak R, Cummings EA, Couch R, Cabral DA, Atkinson S, Alos N, Sykes E, Konji VN, Rauch F, Siminoski K, Lang B
J Clin Endocrinol Metab 2021 Nov 19;106(12):e5195-e5207. doi: 10.1210/clinem/dgab494. PMID: 34232311
Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece.
Papadopoulos I, Bountouvi E, Attilakos A, Gole E, Dinopoulos A, Peppa M, Nikolaidou P, Papadopoulou A
Eur J Pediatr 2019 Mar;178(3):323-329. Epub 2018 Nov 29 doi: 10.1007/s00431-018-3299-3. PMID: 30499050
Osteoporosis in childhood.
Vierucci F, Saggese G, Cimaz R
Curr Opin Rheumatol 2017 Sep;29(5):535-546. doi: 10.1097/BOR.0000000000000423. PMID: 28582319
Bone densitometry in children and adolescents.
Estrada A, Ramnitz MS, Gafni RI
Curr Opin Obstet Gynecol 2014 Oct;26(5):339-46. doi: 10.1097/GCO.0000000000000100. PMID: 25144595
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

Osteoporotic Fractures and Vertebral Body Reshaping in Children With Glucocorticoid-treated Rheumatic Disorders.
Ward LM, Ma J, Robinson ME, Scharke M, Ho J, Houghton K, Huber A, Scuccimarri R, Barsalou J, Roth J, Shenouda N, Matzinger MA, Lentle B, Jaremko JL, Koujok K, Watanabe Duffy K, Stein R, Sbrocchi AM, Rodd C, Miettunen PM, LeBlanc CMA, Larche M, Jurencak R, Cummings EA, Couch R, Cabral DA, Atkinson S, Alos N, Sykes E, Konji VN, Rauch F, Siminoski K, Lang B
J Clin Endocrinol Metab 2021 Nov 19;106(12):e5195-e5207. doi: 10.1210/clinem/dgab494. PMID: 34232311
Outcomes following intravenous bisphosphonate infusion in pediatric patients: A 7-year retrospective chart review.
Nasomyont N, Hornung LN, Gordon CM, Wasserman H
Bone 2019 Apr;121:60-67. Epub 2019 Jan 4 doi: 10.1016/j.bone.2019.01.003. PMID: 30616029
PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.
Kämpe AJ, Costantini A, Mäkitie RE, Jäntti N, Valta H, Mäyränpää M, Kröger H, Pekkinen M, Taylan F, Jiao H, Mäkitie O
Osteoporos Int 2017 Oct;28(10):3023-3032. Epub 2017 Jul 26 doi: 10.1007/s00198-017-4150-9. PMID: 28748388Free PMC Article
Bone densitometry in children and adolescents.
Estrada A, Ramnitz MS, Gafni RI
Curr Opin Obstet Gynecol 2014 Oct;26(5):339-46. doi: 10.1097/GCO.0000000000000100. PMID: 25144595
Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis.
Korvala J, Löija M, Mäkitie O, Sochett E, Jüppner H, Schnabel D, Mora S, Cole WG, Ala-Kokko L, Männikkö M
Eur J Med Genet 2012 Oct;55(10):515-9. Epub 2012 Jul 9 doi: 10.1016/j.ejmg.2012.06.011. PMID: 22789636

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
Infantile osteopetrosis with superimposed rickets.
Gonen KA, Yazici Z, Gokalp G, Ucar AK
Pediatr Radiol 2013 Jan;43(2):189-95. Epub 2012 Nov 14 doi: 10.1007/s00247-012-2511-2. PMID: 23151726

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