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Semin Musculoskelet Radiol 2021; 25(01): 094-104
DOI: 10.1055/s-0040-1722566
Review Article

Metabolic Bone Diseases in the Pediatric Population

Valentina Testini 
1   Department of Clinical and Experimental Medicine, Foggia University School of Medicine, Foggia, Italy
,
Laura Eusebi
2   Radiology Unit, “Carlo Urbani” Hospital, Jesi, Italy
,
Umberto Tupputi
1   Department of Clinical and Experimental Medicine, Foggia University School of Medicine, Foggia, Italy
,
Francesca Anna Carpagnano
1   Department of Clinical and Experimental Medicine, Foggia University School of Medicine, Foggia, Italy
,
Francesco Bartelli
2   Radiology Unit, “Carlo Urbani” Hospital, Jesi, Italy
,
Giuseppe Guglielmi 
1   Department of Clinical and Experimental Medicine, Foggia University School of Medicine, Foggia, Italy
3   Radiology Unit, Barletta University Campus UNIFG, “Dimiccoli” Hospital, Barletta, Italy
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Abstract

Bone plays an important role in regulating mineral balance in response to physiologic needs. In addition, bone is subject to a continuous remodeling process to maintain healthy bone mass and growth. Metabolic bone diseases are a heterogeneous group of diseases caused by abnormalities of bone mass, mineral structure homeostasis, bone turnover, or bone growth. In pediatrics, several significant advances have been made in recent years in the diagnosis of metabolic bone diseases (e.g., osteogenesis imperfecta, hyperparathyroidism, rickets, renal osteodystrophy, pediatric osteoporosis, and osteopetrosis). Imaging is fundamental in the diagnosis of these pathologies.

Keywords

bone metabolism - osteogenesis imperfecta - hyperparathyroidism - rickets - pediatric osteoporosis


Publikationsverlauf

Artikel online veröffentlicht:
21. Mai 2021

© 2021. Thieme. All rights reserved.

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  • References

  • 1 Malcolm AJ. Metabolic bone disease. Curr Diagn Pathol 2002; 8 (01) 19-25
    CrossrefPubMedSuche in Google Scholar
  • 2 Beyens G, Van Hul W. Pathophysiology and genetics of metabolic bone disorders characterized by increased bone turnover. Crit Rev Eukaryot Gene Expr 2007; 17 (03) 215-240
    CrossrefPubMedSuche in Google Scholar
  • 3 Jilka RL. Biology of the basic multicellular unit and the pathophysiology of osteoporosis. Med Pediatr Oncol 2003; 41 (03) 182-185
    CrossrefPubMedSuche in Google Scholar
  • 4 Raggatt LJ, Partridge NC. Cellular and molecular mechanisms of bone remodeling. J Biol Chem 2010; 285 (33) 25103-25108
    CrossrefPubMedSuche in Google Scholar
  • 5 Gómez-Alonso C. Paediatric metabolic bone disease: a lifetime ahead. Adv Ther 2020; 37 (Suppl. 02) 38-46
    CrossrefPubMedSuche in Google Scholar
  • 6 Forlino A, Marini JC. Osteogenesis imperfecta. Lancet 2016; 387 (10028): 1657-1671
    CrossrefPubMedSuche in Google Scholar
  • 7 Marini JC, Reich A, Smith SM. Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation. Curr Opin Pediatr 2014; 26 (04) 500-507
    CrossrefPubMedSuche in Google Scholar
  • 8 Barnes AM, Chang W, Morello R. et al. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 2006; 355 (26) 2757-2764
    CrossrefPubMedSuche in Google Scholar
  • 9 Harrington J, Sochett E, Howard A. Update on the evaluation and treatment of osteogenesis imperfecta. Pediatr Clin North Am 2014; 61 (06) 1243-1257
    CrossrefPubMedSuche in Google Scholar
  • 10 Cohen JS. Patterns of inheritance in osteogenesis imperfecta. In: Shapiro JR, Byers PH, Glorieux FH, Sponseller PD. eds. Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease. New York, NY: Elsevier; 2013: 99
    Suche in Google Scholar
  • 11 Sillence DO, Rimoin DL, Danks DM. Clinical variability in osteogenesis imperfecta—variable expressivity or genetic heterogeneity. Birth Defects Orig Artic Ser 1979; 15 (5B) 113-129
    PubMedSuche in Google Scholar
  • 12 Willing MC, Deschenes SP, Scott DA. et al. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet 1994; 55 (04) 638-647
    PubMedSuche in Google Scholar
  • 13 Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 2014; 164A (06) 1470-1481 Published correction appears in Am J Med Genet A 2015;167A(5):1178
    CrossrefPubMedSuche in Google Scholar
  • 14 El Demellawy D, Davila J, Shaw A, Nasr Y. Brief review on metabolic bone disease. Acad Forensic Pathol 2018; 8 (03) 611-640
    CrossrefPubMedSuche in Google Scholar
  • 15 Glorieux FH, Rauch F, Plotkin H. et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 2000; 15 (09) 1650-1658
    CrossrefPubMedSuche in Google Scholar
  • 16 Laine CM, Joeng KS, Campeau PM. et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med 2013; 368 (19) 1809-1816
    CrossrefPubMedSuche in Google Scholar
  • 17 Kang H, Aryal A C S, Marini JC. Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia. Transl Res 2017; 181: 27-48
    CrossrefPubMedSuche in Google Scholar
  • 18 Palomo T, Vilaça T, Lazaretti-Castro M. Osteogenesis imperfecta: diagnosis and treatment. Curr Opin Endocrinol Diabetes Obes 2017; 24 (06) 381-388
    CrossrefPubMedSuche in Google Scholar
  • 19 Fotiadou AN, Calleja M, Hargunani R, Keen R. Skeletal manifestations of osteogenesis imperfecta. Semin Musculoskelet Radiol 2016; 20 (03) 279-286
    Thieme ConnectPubMedSuche in Google Scholar
  • 20 Ben Amor IM, Roughley P, Glorieux FH, Rauch F. Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. J Bone Miner Res 2013; 28 (09) 2001-2007
    CrossrefPubMedSuche in Google Scholar
  • 21 Zionts LE, Moon CN. Olecranon apophysis fractures in children with osteogenesis imperfecta revisited. J Pediatr Orthop 2002; 22 (06) 745-750
    CrossrefPubMedSuche in Google Scholar
  • 22 Rauch F, Plotkin H, Zeitlin L, Glorieux FH. Bone mass, size, and density in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate therapy. J Bone Miner Res 2003; 18 (04) 610-614
    CrossrefPubMedSuche in Google Scholar
  • 23 Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ. Imaging findings of metabolic bone disease. Radiographics 2016; 36 (06) 1871-1887
    CrossrefPubMedSuche in Google Scholar
  • 24 Khan A, Bilezikian J. Primary hyperparathyroidism: pathophysiology and impact on bone. CMAJ 2000; 163 (02) 184-187
    PubMedSuche in Google Scholar
  • 25 Bhadada SK, Bhansali A, Dutta P, Behera A, Chanukya GV, Mittal BR. Characteristics of primary hyperparathyroidism in adolescents. J Pediatr Endocrinol Metab 2008; 21 (12) 1147-1153
    CrossrefPubMedSuche in Google Scholar
  • 26 Starker LF, Akerström T, Long WD. et al. Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism. Horm Cancer 2012; 3 (1-2): 44-51
    CrossrefPubMedSuche in Google Scholar
  • 27 Roizen J, Levine MA. Primary hyperparathyroidism in children and adolescents. J Chin Med Assoc 2012; 75 (09) 425-434
    CrossrefPubMedSuche in Google Scholar
  • 28 Murphey MD, Sartoris DJ, Quale JL, Pathria MN, Martin NL. Musculoskeletal manifestations of chronic renal insufficiency. Radiographics 1993; 13 (02) 357-379
    CrossrefPubMedSuche in Google Scholar
  • 29 Fraser WD. Hyperparathyroidism. Lancet 2009; 374 (9684): 145-158
    CrossrefPubMedSuche in Google Scholar
  • 30 Treglia G, Annunziata S, Pizzuto DA, Giovanella L, Prior JO, Ceriani L. Detection rate of 18F-labeled PSMA PET/CT in biochemical recurrent prostate cancer: a systematic review and a meta-analysis. Cancers (Basel) 2019; 11 (05) 710
    CrossrefPubMedSuche in Google Scholar
  • 31 Cristina EV, Alberto F. Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism. Best Pract Res Clin Endocrinol Metab 2018; 32 (06) 861-875
    CrossrefPubMedSuche in Google Scholar
  • 32 Marcocci C, Cetani F. Clinical practice. Primary hyperparathyroidism. N Engl J Med 2011; 365 (25) 2389-2397 Published correction appears in N Engl J Med 2012;366(22):2138
    CrossrefPubMedSuche in Google Scholar
  • 33 Pitt MJ. Rickets and osteomalacia are still around. Radiol Clin North Am 1991; 29 (01) 97-118
    CrossrefPubMedSuche in Google Scholar
  • 34 Berry JL, Davies M, Mee AP. Vitamin D metabolism, rickets, and osteomalacia. Semin Musculoskelet Radiol 2002; 6 (03) 173-182
    Thieme ConnectPubMedSuche in Google Scholar
  • 35 Tiosano D, Hochberg Z. Hypophosphatemia: the common denominator of all rickets. J Bone Miner Metab 2009; 27 (04) 392-401
    CrossrefPubMedSuche in Google Scholar
  • 36 Allgrove J, Shaw NJ. A practical approach to vitamin D deficiency and rickets. Endocr Dev 2015; 28: 119-133
    CrossrefPubMedSuche in Google Scholar
  • 37 Mughal MZ, Salama H, Greenaway T, Laing I, Mawer EB. Lesson of the week: florid rickets associated with prolonged breast feeding without vitamin D supplementation. BMJ 1999; 318 (7175): 39-40
    CrossrefPubMedSuche in Google Scholar
  • 38 Whyte MP. Hypophosphatasia—aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 2016; 12 (04) 233-246
    CrossrefPubMedSuche in Google Scholar
  • 39 Mornet E. Hypophosphatasia. Metabolism 2018; 82: 142-155
    CrossrefPubMedSuche in Google Scholar
  • 40 Bangura A, Wright L, Shuler T. Hypophosphatasia: current literature for pathophysiology, clinical manifestations, diagnosis, and treatment. Cureus 2020; 12 (06) e8594
    PubMedSuche in Google Scholar
  • 41 Resnick D. The sclerotic vertebral body. JAMA 1983; 249 (13) 1761-1763
    CrossrefPubMedSuche in Google Scholar
  • 42 Tejwani NC, Schachter AK, Immerman I, Achan P. Renal osteodystrophy. J Am Acad Orthop Surg 2006; 14 (05) 303-311
    CrossrefPubMedSuche in Google Scholar
  • 43 Goodman WC, Coburn JW, Slatopolsky E, Salusky IB, Quarles LD. Renal osteodystrophy in adults and children. In: Favus M. ed. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. 3th ed.. Washington, DC: American Society for Bone and Mineral Research; 2003: 341-360
    Suche in Google Scholar
  • 44 Kemper MJ, van Husen M. Renal osteodystrophy in children: pathogenesis, diagnosis and treatment. Curr Opin Pediatr 2014; 26 (02) 180-186
    CrossrefPubMedSuche in Google Scholar
  • 45 Moorthi RN, Moe SM. Recent advances in the noninvasive diagnosis of renal osteodystrophy. Kidney Int 2013; 84 (05) 886-894
    CrossrefPubMedSuche in Google Scholar
  • 46 Torres A, Lorenzo V, Gonzalez-Posada JM. Comparison of histomorphometry and computerized tomography of the spine in quantitating trabecular bone in renal osteodystrophy. Nephron 1986; 44 (04) 282-287
    CrossrefPubMedSuche in Google Scholar
  • 47 Lima EM, Goodman WG, Kuizon BD. et al. Bone density measurements in pediatric patients with renal osteodystrophy. Pediatr Nephrol 2003; 18 (06) 554-559
    CrossrefPubMedSuche in Google Scholar
  • 48 Denburg MR, Tsampalieros AK, de Boer IH. et al. Mineral metabolism and cortical volumetric bone mineral density in childhood chronic kidney disease. J Clin Endocrinol Metab 2013; 98 (05) 1930-1938
    CrossrefPubMedSuche in Google Scholar
  • 49 Jamal SA, Gilbert J, Gordon C, Bauer DC. Cortical pQCT measures are associated with fractures in dialysis patients. J Bone Miner Res 2006; 21 (04) 543-548
    CrossrefPubMedSuche in Google Scholar
  • 50 Vierucci F, Saggese G, Cimaz R. Osteoporosis in childhood. Curr Opin Rheumatol 2017; 29 (05) 535-546
    CrossrefPubMedSuche in Google Scholar
  • 51 Marrani E, Giani T, Simonini G, Cimaz R. Pediatric osteoporosis: diagnosis and treatment considerations. Drugs 2017; 77 (06) 679-695
    CrossrefPubMedSuche in Google Scholar
  • 52 Ward LM, Konji VN, Ma J. The management of osteoporosis in children. Osteoporos Int 2016; 27 (07) 2147-2179
    CrossrefPubMedSuche in Google Scholar
  • 53 Williams KM. Update on bone health in pediatric chronic disease. Endocrinol Metab Clin North Am 2016; 45 (02) 433-441
    CrossrefPubMedSuche in Google Scholar
  • 54 Canalis E, Mazziotti G, Giustina A, Bilezikian JP. Glucocorticoid-induced osteoporosis: pathophysiology and therapy. Osteoporos Int 2007; 18 (10) 1319-1328
    CrossrefPubMedSuche in Google Scholar
  • 55 Gordon CM, Leonard MB, Zemel BS. International Society for Clinical Densitometry. 2013 Pediatric Position Development Conference: executive summary and reflections. J Clin Densitom 2014; 17 (02) 219-224 . Published correction appears in J Clin Densitom 2014;17(4):517
    CrossrefPubMedSuche in Google Scholar
  • 56 Bachrach LK, Gordon CM. SECTION ON ENDOCRINOLOGY. Bone densitometry in children and adolescents. Pediatrics 2016; 138 (04) e20162398
    CrossrefPubMedSuche in Google Scholar
  • 57 Genant HK, Wu CY, van Kuijk C, Nevitt MC. Vertebral fracture assessment using a semiquantitative technique. J Bone Miner Res 1993; 8 (09) 1137-1148
    CrossrefPubMedSuche in Google Scholar
  • 58 Bacon S, Crowley R. Developments in rare bone diseases and mineral disorders. Ther Adv Chronic Dis 2018; 9 (01) 51-60
    CrossrefPubMedSuche in Google Scholar
  • 59 Stoker DJ. Osteopetrosis. Semin Musculoskelet Radiol 2002; 6 (04) 299-305
    Thieme ConnectPubMedSuche in Google Scholar
  • 60 Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis 2009; 4: 5
    CrossrefPubMedSuche in Google Scholar