Three years follow-up of pamidronate therapy in two brothers with Osteoporosis-Pseudoglioma Syndrome (OPPG) carrying an LRP5 mutation

Journal of Pediatric Endocrinology and Metabolism

Volumn 21, Issue 8, 2008, Pages 811-818

  Barros, Elizabete Ribeiro ^a   da Silva, Magnus R Dias ^a   Kunii, Ilda S ^a   Lazaretti Castro, Marise ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Bisphosphonate; LRP5; Osteoporosis pseudoglioma; Skeletal fragility

Indexed keywords

ALKALINE PHOSPHATASE; AMINOTRANSFERASE; ASPARAGINE; CALCIUM; CREATINE; ISOLEUCINE; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; PAMIDRONIC ACID; PARATHYROID HORMONE; PHOSPHORUS; VITAMIN D;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLINDNESS; BONE DENSITY; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DRUG SAFETY; DUAL ENERGY X RAY ABSORPTIOMETRY; FOLLOW UP; FRAGILITY FRACTURE; HETEROZYGOSITY; HUMAN; LOW BACK PAIN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OSTEOPOROSIS PSEUDOGLIOMA SYNDROME; VERTEBRA FRACTURE;

EID: 52649089732     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2008.21.8.811     Document Type: Article

References (23)

1. Westendorf JJ, Kahler RA, Schroeder TM. Wnt signaling in osteoblasts and bone diseases. Gene 2004; 341: 19-39.
2. Levasseur R, Lacombe D, Vernejoul MC. LRP5 mutation in osteoporosis-pseudoglioma syndrome and high-bone mass disorders. Joint Bone Spine 2005; 72: 207-214.
3. Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekarn RC, Hirose T, Jans A, Jüppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML; Osteoporosis-Pseudoglioma Syndrome Collaborative Group. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 2001; 107: 513-523.
4. Ai M, Heeger S Bartels CF, Schelling DK; Osteoporosis-Pseudoglioma Collaborative Group. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. Am J Hum Genet 2005; 77: 741-753.
5. Zacharin M, Cundy T. Osteoporosis pseudoglioma syndrome: treatment of spinal osteoporosis with intravenous bisphosphonates. J Pediatr 2000; 137: 410-415.
6. Bayram F, Tanriverdi F, Kurtoglu S, Atabek ME, Kula M, Kaynar L, Kelestimur F. Effects of 3 years of intravenous pamidronate treatment on bone markers and bone mineral density in a patient with osteoporosis-pseudoglioma syndrome (OPPG). J Pediatr Endocrinol Metab 2006; 19: 275-279.
7. Hartikka H, Makitie O, Mannikko M, Doria AS, Daneman A, Cole WG, Ala-Kokko L, Sochett EB. Heteozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. J Bone Miner Res 2005; 20: 789-789
8. Munns CF, Rauch F, Travers R, Glorieux FH. Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome. J Bone Miner Res 2005; 20: 1235-1243.
9. Plotkin H, Rauch F, Bishop NJ, Montpetit K, Ruck-Gibis J, Travers R, Glorieux FH. Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. J Clin Endocrinol Metab 2000; 85: 1846-1850.
10. Zeitlin L, Rauch F, Travers R, Munns C, Glorieux FH. The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta type V. Bone 2006; 38: 13-20.
11. Zacharin M, O'Sullivan M Intravenous pamidronate treatment of polyostotic fibrous dysplasia associated with the McCune Albright syndrome. J Pediatr 2000; 137: 403409.
12. Hoekman K, Papapoulos SE, Peters AC, Bijvoet OL. Characteristics and bisphosphonate treatment of a patient with juvenile osteoporosis. J Clin Endocrinol Metab 1985; 61: 952-956.
13. Sellers E, Sharma A, Rodd C. The use of pamidronate in three children with renal disease. Pediatr Nephrol 1998; 12: 778-781.
14. Adami S, Bhalla AK, Dorizzi R, Montesanti F, Rocini S, Salvagno G, Cascio V. The acute-phase response after bisphosphonate administration. Calcif Tissues Int 1987; 41: 326-331.
15. Thiebaud D, Sauty A, Burckhardt P, Leuenberger P, Sitzler L, Green JR, Kandra A, Zieschag J, Ibarra de Palacios. An in vitro and in vivo study of cytokines in the acute-phase response associated with bisphosphonates. Calcif Tissue Int 1997; 61: 386-392.
16. Gong Y, Vikkula M, Boon L, Liu J, Beighton P, Ramesar R, Peltonen L, Somer H, Hirose T, Dallapiccola B, de Paepe A, Swoboda W, Zabel B, Superti-Furga A, Steinmann B, Brunner HG, Jans A, Boles RG, Adkins W, van den Boogaard MJ, Olsen BR, Warman ML. Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet 1996; 59: 146-151.
17. Hey PJ, Twells RC, Phillips MS, Yusuke Nakagawa, Brown SD, Kawaguchi Y, Cox R, Guochun Xie, Dugan V, Hammond H, Metzker ML, Told JA, Hess JF. Cloning of a novel member of the low-density lipoprotein receptor family. Gene 1998; 216: 103-111.
18. Dong Y, Lathrop W, Weaver D, Qui Q, Cini J, Bertolini D, Chen D. Molecular cloning and characterization of LR3, a novel LRL receptor family protein with mitogenic activity. Biochem Biophys Res Commun 1998; 251:784-790.
19. Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. Autosomal recessive familial exudative vitreo-retinopathy is associated with mutations in LRP5. Am J Hum Genet 2004; 75: 878-884.
20. Little RD, Carulli JP, Del Mastro RG, Dupuis J, Osborne M, Folz C, Manning SP, Swain PM, Zhao SC, Eustace B, Lappe MM, Spitzer L, Zweier S, Braunschweuger K, Benchekroun Y, Hu X, Adair R, Chee L, FitzGerald MG, Tulig C, Caruso A, Tzellas N, Bawa A, Franklin B, McGuire S, Nogues X, Gong G, Allen KM, Anisowiez A, Morales AJ, Lomedico PT, Recker SM, Van Eerdewegh P, Recker RR, Johnson ML. A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet 2002; 70: 11-19.
21. Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet 2004; 74: 721-730.
22. Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet 2003; 72: 763-771.
23. Boyren LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP. High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 2002; 346: 1513-1521.