Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets

Pediatric Endocrinology Reviews

Volumn 1, Issue 4, 2004, Pages 361-379

  Baroncelli, Giampiero Igli ^a,b   Bertelloni, Silvano ^a   Sodini, Federica ^a   Galli, Laura ^a   Vanacore, Teresa ^a   Fiore, Lisa ^a   Saggese, Giuseppe ^a  

^a Endocrine Unit   (Italy)

^b UNIVERSITY OF PISA   (Italy)

Author keywords

Biochemical findings; Bone deformities; Genetic advances; Medical treatment; Short stature; Surgical treatment; Treatment complications; X Linked Hypophosphatemic Rickets

Indexed keywords

ALFACALCIDOL; CALCITRIOL; FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR 23; PHOSPHATE; VITAMIN D DERIVATIVE;

ABDOMINAL PAIN; BODY GROWTH; BONE DEFORMATION; CHROMOSOME XP; CLINICAL FEATURE; DIARRHEA; DISEASE ASSOCIATION; ENDOPEPTIDASE GENE; FGF 23 GENE; GENE; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HEMATOCHEZIA; HUMAN; HYPERCALCEMIA; HYPERCALCIURIA; HYPOPHOSPHATEMIA; KIDNEY CALCIFICATION; KIDNEY TUBULE; LONG TERM CARE; MOLECULAR MECHANICS; PATHOGENESIS; PHEX GENE; PHOSPHATE BLOOD LEVEL; PHOSPHATE METABOLISM; RENAL TUBULAR PHOSPHATE WASTING; REVIEW; RICKETS; SECONDARY HYPERPARATHYROIDISM; SEQUENCE HOMOLOGY; SHORT STATURE; VITAMIN D INTOXICATION; VITAMIN D RESISTANT RICKETS; VITAMIN SUPPLEMENTATION; X CHROMOSOME LINKAGE;

HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; MEMBRANE GLYCOPROTEINS; METALLOENDOPEPTIDASES; MUTATION; ORTHOPEDIC PROCEDURES; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PHOSPHATES;

EID: 13444259855     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (193)

1. Jan de Beur SM, Levine MA. Molecular pathogenesis of hypophosphatemic rickets. J Clin Endocrinol Metab 2002;87:2467-2473
2. Winters RW, Graham JB, Williams TF, McFalls VW, Burnett CH. A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature. Medicine 1958;37:97-142
3. Rasmussen H, Tenenhouse HS. Mendelian hypophosphatemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D eds The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, 1995;3717-3745
4. Albright F, Butler AM, Bloomberg E. Rickets resistant to vitamin D therapy. Am J Dis Child 1937;54:529-547
5. Glorieux FH, Scriver CR, Reade TM, Goldman H, Roseborough A. Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. N Engl J Med 1972;287:481-487
6. Glorieux FH, Marie PJ, Pettifor JM, Delvin EE. Bone response to phosphate salts, ergocalciferol and calcitriol in hypophosphatemic vitamin D-resistant rickets. N Engl J Med 1980;303:1023-1031
7. Chan JC, Alon U, Hirschman GM. Renal hypophosphatemic rickets. J Pediatr 1985;106:533-544
8. Drezner MK. PHEX gene and hypophosphatemia. Kidney Int 2000;57:9-18
9. DiMeglio LA, Econs MJ. Hypophosphatemic rickets. Rev Endocr Metab Disord 2001;2:165-173
10. Frost HM. A unique histological feature of vitamin D resistant rickets observed in four cases. Acta Orthop Scand 1963;33:220-226
11. Marie PJ, Glorieux FH, Relation between hypomineralized periosteocytic lesions and bone mineralization in vitamin D-resistant rickets. Calcif Tissue Int 1983;35:443-448
12. Bianchine JW, Stambler A, Harrison H. Familial hypophosphatemic rickets showing autosomal dominant inheritance. Birth Defects: Original Article Series 1971;7:287-295
13. Econs M, McEnery P. Autosomal dominant hypophosphatemic rickets/osteomalacia; clinical characterization of a novel renal phosphate wasting disorder. J Clin Endocrinol Metab 1997;82:674-681
14. HYP Consortium. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 1995;11:130-136
15. Francis F, Strom TM, Hennig S, Boddrich A, Lorenz B, Brandau O, Mohnike KL, Cagnoli M, Steffens C, Klages S, Borzym K, Pohl T, Oudet C, Econs MJ, Rowe PS, Reinhardt R, Meitinger T, Lehrach H. Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Res 1997;7:573-785
16. Tenenhouse HS, Sabbagh Y. Novel phosphate-regulating genes in the pathogenesis of renal phosphate wasting disorders. Eur J Physiol 2002;444:317-326
17. Sabbagh Y, Jones AO, Tenenhouse HS. PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. Hum Mutat 2000;16:1-6
18. Sabbagh Y, Boileau G, DesGroseillers L, Tenenhouse HS. Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein. Hum Mol Genet 2001;10;1539-1546
19. Du L, Desbarats M, Viel J, Glorieux FH, Cawthorn C, Ecarot B. cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Genomics 1996;36;22-28
20. Beck L, Soumounou Y, Martel J, Krishnamurthy G, Gauthier C, Goodyer CG, Tenenhouse HS. Pex/PEX tissue distribution and evidence for a deletion in the 3′ region of the Pex gene in X-linked hypophosphatemic mice. J Clin Invest 1997;99:1200-1209
21. Ruchon AF, Marcinkiewicz M, Siegfried G, Tenenhouse HS, DesGroseillers L, Crine P, Boileau G, Pex mRNA is localized in developing mouse osteoblasts and odontoblasts. J Histochem Cytochem 1998;46:459-468
22. Blydt-Hansen TD, Tenenhouse HS, Goodyer P. PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia. Pediatr Nephrol 1999;13:607-611
23. Ruchon AF, Tenenhouse HS, Marcinkiewicz M, Siegfried G, Aubin JE, DesGroseillers L, Crine P, Boileau G. Developmental expression and tissue distribution of PHEX protein: effect of the Hyp mutation and relationship to bone markers. J Bone Miner Res 2000;15:1440-1450
24. Miao D, Bai X, Panda D, McKee M, Karaplis A, Goltzman D. Osteomalacia in hyp mice is associated with abnormal PHEX expression and with altered bone matrix protein expression and deposition. Endocrinology 2001;142:926-939
25. Thompson DL, Sabbagh Y, Tenenhouse HS, Roche PC, Drezner MK, Salisbury JL, Grande JP, Poeschla EM, Kumar R, Ontogeny of PHEX/PHEX protein expression in mouse embryo and subcellular localization in osteoblasts. J Bone Miner Res 2002;17:311-320
26. Iorio RJ, Bell WA, Meyer MH, Meyer RA Jr. Radiographic evidence of craniofacial and dental abnormalities in the X-linked hypophosphatemic mouse. Ann Dent 1979;38:31-37
27. Ecarot B, Glorieux FH, Desbarats M, Travers R, Labelle L. Defective bone formation by Hyp mouse bone cells transplanted into normal mice: evidence in favor of an intrinsic osteoblast defect. J Bone Miner Res 1992;7:215-220
28. Tenenhouse HS. X-linked hypophosphataemia: a homologous disorder in humans and mice. Nephrol Dial Transplant 1999;14:333-341
29. ADHR Consortium. Autosomal dominant hypophosphatemic rickets is associated with mutations in FGF23. Nat Genet 2000;26:345-348
30. White KE, Carn G, Lorenz-Depiereux B, Benet-Pages A, Strom TM, Econs MJ. Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23. Kidney Int 2001;60:2079-2086
31. White KE, Jonsson KB, Carn G, Hampson G, Spector TD, Mannstadt M, Lorenz-Depiereux B, Miyauchi A, Yang IM, Ljunggren O, Meitinger T, Strom TM, Juppner H, Econs MJ. The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. J Clin Endocrinol Metab 2001;86;497-500
32. Shimada T, Mizutani S, Muto T, Yoneya T, Hino R, Takeda S, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci USA 2001;98:6500-6505
33. Jan de Beur SM, Finnegan RB, Vassiliadis J, Cook B, Barberio D, Estes S, Manavalan P, Petroziello J, Madden SL, Cho JY, Kumar R, Levine MA, Schiavi SC. Tumors associated with oncogenic osteomalacia express genes important in bone and mineral metabolism. J Bone Miner Res 2002;17:1102-1110
34. Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, Imanishi Y, Yamamoto T, Hampson G, Koshiyama H, Ljunggren O, Oba K, Yang IM, Miyauchi A, Econs MJ, Lavigne J, Juppner H. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 2003;348:1656-1663
35. Strewler GJ. FGF23, hypophosphatemia and rickets; has phosphatonin been found? Proc Natl Acad Sci USA 2001;98:5945-5946
36. Kumar R. New insights into phosphate homeostasis: fibroblast growth factor 23 and frizzled-related protein-4 are phosphaturic factors derived from tumors associated with osteomalacia. Curr Opin Nephrol Hypertens 2002;11:547-553
37. Carpenter TO. Oncogenic osteomalacia. A complex dance of factors. N Engl J Med 2003;348:1705-1708
38. Schiavi SC, Kumar R. The phosphatonin pathway: new insights in phosphate homeostasis. Kidney Int 2004;65:1-14
39. Bowe AE, Finnegan R, Jan de Beur SM, Cho J, Levine MA, Kumar R, Schiavi SC. FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. Biochem Biophys Res Commun 2001;284:977-981
40. Guo R, Liu S, Spurney RF, Quarles LD. Analysis of recombinant PHEX: an endopeptidase in search of a substrate. Am J Physiol Endocrinol Metab 2001;281;E837-E847
41. Liu S, Guo R, Simpson LG, Xiao ZS, Burnham CE, Quarles LD. Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX. J Biol Chem 2003;278:37419-37426
42. Shimada T, Muto T, Urakawa I, Yoneya T, Yamazaki Y, Okawa K, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T, Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. Endocrinology 2002;143:3179-3182
43. Shimada T, Urakawa I, Yamazaki Y, Hasegawa H, Hino R, Yoneya T, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T. FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa. Biochem Biophys Res Commun 2004;314:409-414
44. Larsson T, Marsell R, Schipani E, Ohlsson C, Ljunggren O, Tenenhouse HS, Juppner H, Jonsson KB. Transgenic mice expressing fibroblast growth factor 23 under the control of the α1(I) collagen promoter exhibit growth retardation, osteomalacia and disturbed phosphate homeostasis. Endocrinology 2004; in press
45. Rowe PS, Kumagai Y, Gutierrez G, Garrett IR, Blacher R, Rosen D, Cundy J, Navvab S, Chen D, Drezner MK, Quartes LD, Mundy GR. MEPE has the properties of an osteoblastic phosphatonin and minhibin. Bone 2004;34:303-319
46. Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, Tajima T, Takeuchi Y, Fujita T, Nakahara K, Yamashita T, Fukumoto S. Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 2002;87:4957-4960
47. Weber TJ, Liu S, Indridason OS, Quarles LD. Serum FGF23 levels in normal and disordered phosphorus homeostasis. J Bone Miner Res 2003;18:1227-1234
48. Larsson T, Nisbeth U, Ljunggren O, Juppner H, Jonsson KB. Circulating concentration of FGF-23 increases as renal function declines in patients with chronic kidney disease, but does not change in response to variation in phosphate intake in healthy volunteers. Kidney Int 2003;64;2272-2279
49. Xiao ZS, Crenshaw M, Guo R, Nesbitt T, Drezner MK, Quarles LD. Intrinsic mineralization defect in Hyp mouse osteoblasts. Am J Physiol 1998;275(4 Pt 1):E700-E708
50. Folpe AL, Fanburg-Smith JC, Billings SD, Bisceglia M, Bertoni F, Cho JY, Econs MJ, Inwards CY, Jan de Beur SM, Mentzel T, Montgomery E, Michal M, Miettinen M, Mills SE, Reith JD, O'Connell JX, Rosenberg AE, Rubin BP, Sweet DE, Vinh TN, Wold LE, Wehrli BM, White KE, Zaino RJ, Weiss SW. Most osteomalacia-associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature. Am J Surg Pathol 2004;28:1-30
51. Schiavi SC, Moe OW. Phosphatonins: a new class of phosphate-regulating proteins. Curr Opin Nephrol Hypertens 2002;11:423-430
52. Berndt T, Craig TA, Bowe AE, Vassiliadis J, Reczek D, Finnegan R, Jan De Beur SM, Schiavi SC, Kumar R. Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent. J Clin Invest 2003;112:785-794
53. Argiro L, Desbarats M, Glorieux FH, Ecarot B. Mepe, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone. Genomics 2001;74:342-351
54. Bai X, Miao D, Panda D, Grady S, McKee MD, Goltzman D, Karaplis AC. Partial rescue of the Hyp phenotype by osteoblast-targeted PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) expression. Mol Endocrinol 2002;16:2913-2925.
55. Guo R, Rowe PS, Liu S, Simpson LG, Xiao ZS, Quarles LD. Inhibition of MEPE cleavage by PHEX. Biochem Biophys Res Commun 2002;297:38-45
56. Campos M, Couture C, Hirata IY, Juliano MA, Loisel TP, Crine P, Juliano L, Boileau G, Carmona AK. Human recombinant endopeptidase PHEX has a strict S1′ specificity for acidid residues and cleaves peptides derived from fibroblast growth factor-23 and matrix extracellular phosphoglycoprotein. Biochem J 2003;373:271-279
57. Rowe PS, de Zoysa PA, Dong R, Wang HR, White KE, Econs MJ, Oudet CL. MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia. Genomics 2000;67:54-68
58. Quarles LD, Drezner MK. Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia and autosomal dominant hypophosphatemia: a PerPHEXing problem. J Clin Endocrinol Metab 2001;86:494-496
59. Quarles LD. Evidence for a bone-kidney axis regulating phosphate homeostasis. J Clin Invest 2003;112:642-646
60. Liu S, Brown TA, Xiao Z, Guo R, Quarles LD. Deletion of Mepe in Hyp mice fails to correct hypophosphatemia but partially rescues abnormal mineralization ex vivo. J Bone Min Res 2004; in press
61. Gowen LC, Petersen DN, Mansolf AL, Qi H, Stock JL, Tkalcevic GT, Simmons HA, Crawford DT, Chidsey-Frink KL, Ke HZ, McNeish JD, Brown TA. Targeted disruption of the osteoblast/osteocyte factor 45 gene (OF45) results in increased bone formation and bone mass. J Biol Chem 2003;278:1998-2007
62. Riminucci M, Collins MT, Fedarko NS, Cherman N, Corsi A, White KE, Waguespack S, Gupta A, Hannon T, Econs MJ, Bianco P, Gehron Robey P. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest 2003;112:683-692
63. 3 segments of hyp-mouse proximal renal tubules. J Bone Miner Res 1995;10:1327-1333
64. Morgan J, Hawley W, Chenoweth A, Retan W, Diethelm A. Renal transplantation in hypophosphatemia with vitamin D-resistant rickets. Arch Int Med 1974;134:549-552
65. Vantour L, Loertscher R, Blydt-hansen T, Goodyear P, Goltzman D. Renal transplantation does not reverse the metabolic abnormalities associated with X-linked hypophosphatemic rickets. Bone 1998;23:S181 (Abstract)
66. Kos CH, Tihy F, Econs MJ, Murer H, Lemieux N, Tenenhouse HS. Localization of a renal sodium phosphate cotransporter gene to human chromosome 5q35. Genomics 1994;19:176-177
67. 3-1α-hydroxylase by phosphate depletion. J Biol Chem 1976;251:3158-3161
68. Insogna KL, Broadus AE, Gertner JM. Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets. J Clin Invest 1983;71:1562-1569
69. Lyles KW, Drezner MK. Parathyroid hormone effects on serum 1,25-dihydroxyvitamin D levels in patients with X-linked hypophosphatemic rickets: evidence for abnormal 25-hydroxyvitamin D-1-hydroxylase activity. J Clin Endocrinol Metab 1982;54:638-644
70. Meyer RA, Gray RW, Meyer MH. Abnormal vitamin D metabolism in the X-linked hypophosphatemic mouse. Endocrinology 1980;107:1577-1581
71. Lobaugh B, Drezner MK. Abnormal regulation of renal 25-hydroxyvitamin D-1a-hydroxylase activity in the X-linked hypophosphatemic mouse. J Clin Invest 1983;71:400-403
72. 3-1α- hydroxylase in a case of X-linked hypophosphataemic rickets. Eur J Pediatr 1984;142:219-222
73. 3 in murine X-linked hypophosphatemic rickets. J Clin Invest 1988;81:461-465
74. Fujiwara I, Aravindan R, Horst RL, Drezner MK. Abnormal regulation of renal 25-hydroxyvitamin D-1α-hydroxylase activity in X-linked hypophosphatemia: a translational or post-translational defect. J Bone Miner Res 2003;18:434-442
75. Nesbitt T, Lobaugh B, Drezner MK. Calcitonin stimulation of renal 25-hydroxyvitamin, D-1α-hydroxylase activity in hypophosphatemic mice. Evidence that the regulation of calcitriol production is not universally abnormal in X-linked hypophosphatemia. J Clin Invest 1987;79:15-19
76. Econs MJ, Lobaugh B, Drezner MK. Normal calcitonin stimulation of serum calcitriol in patients with X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 1992;75:408-411
77. McNair SL, Stickler GB. Growth in familial hypophosphatemic vitamin-D-resistant rickets. N Engl J Med 1969;281:512-516
78. Steendijk R, Herweijer TJ. Height, sitting height and leg length in patients with hypophosphataemic rickets. Acta Paediatr Scand 1984;73:181-184
79. Steendijk R, Hauspie RC. The pattern of growth and growth retardation of patients with hypophosphataemic vitamin D-resistant rickets: a longitudinal study. Eur J Pediatr 1992;151:422-427
80. Larmas M, Hietala EL, Simila S, Pajari U. Oral manifestations of familial hypophosphatemic rickets after phosphate supplement therapy: a review of the literature and report of case. J Dent Child 1991;58:328-334
81. Murayama T, Iwatsubo R, Akiyama S, Amano A, Morisaki I. Familial hypophosphatemic vitamin D-resistant rickets: dental findings and histologic study of teeth. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2000;90:310-316
82. Shroff DV, McWhorter AG, Seale NS. Evaluation of aggressive pulp therapy in a population of vitamin D-resistant rickets patients: a follow-up of 4 cases. Pediatr Dent 2002;24:347-349
83. Chaussain-Miller C, Sinding C, Wolikow M, Lasfargues JJ, Godeau G, Garabedian M. Dental abnormalities in patients with familial hypophosphatemic vitamin D-resistant rickets: prevention by early treatment with 1-hydroxyvitamin D. J Pediatr 2003;142:324-331
84. Kruse K, Hinkel GK, Griefahn B. Calcium metabolism and growth during early treatment of children with X-linked hypophosphataemic rickets. Eur J Pediatr 1998;157:894-900
85. Polisson RP, Martinez S, Khoury M, Harrell RM, Lyles KW, Friedman H, Harrelson JM, Reisner E, Drezner MK. Calcification of entheses associated with X-linked hypophosphatemic osteomalacia. N Engl J Med 1985;313:1-6
86. Reid IR, Hardy DC, Murphy WA, Teitelbaum SL, Bergfeld MA, Whyte MP. X-linked hypophosphatemia: a clinical, biochemical and histopathologic assessment of morbidity in adults. Medicine 1989;68:336-352
87. Balsan S, Tieder M. Linear growth in patients with hypophosphatemic vitamin D-resistant rickets: influence of treatment regimen and parental height. J Pediatr 1990;116:365-371
88. Glorieux FH. Rickets, the continuing challenge. N Engl J Med 1991;325:1875-1877
89. Petersen DJ, Boniface AM, Schranck FW, Rupich RC, Whyte MP. X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy. J Bone Miner Res 1992;7:583-597
90. Whyte MP, Schranck FW, Armamento-Villareal R. X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab 1996;81:4075-4080
91. Qiu ZQ, Travers R, Rauch F, Glorieux FH, Scriver CR, Tenenhouse HS. Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice. Bone 2004;34;134-139
92. Swischuk LE, Hoyden CK Jr. Rickets: a roentgenographic scheme for diagnosis. Pediatr Radiol 1979;8:203-208
93. Saggese G, Baroncelli GI, Bertelloni S, Carlotti C, Cinquanta L, Perri G. X-linked hypophosphatemic rickets: radiological features and differential diagnosis. It J Pediatr 1992;18:20-25
94. Econs MJ, Feussner JR, Samsa GP, Effman EL, Vogler JB, Martinez S, Friedman NE, Quarles LD, Drezner MK. X-linked hypophosphatemic rickets without "rickets". Skeletal Radiol 1991;20:109-114
95. Hanna JD, Niimi K, Chan JC. X-linked hypophosphatemia. Genetic and clinical correlates. Am J Dis Child 1991;145:865-870
96. Latta K, Hisano S, Chan JC. Therapeutics of X-linked hypophosphatemic rickets. Pediatr Nephrol 1993;7:744-748
97. 3 in the pathogenesis and treatment of X-linked hypophosphatemic rickets and osteomalacia. J Clin Invest 1980;66:1020-1032
98. Carpenter TO. New perspectives on the biology and treatment of X-linked hypophosphatemic rickets. Pediatr Clin North Am 1997;44:443-466
99. Engfeldt B, Winberg J, Zetterstrom R. Primary vitamin-D resistant rickets. III. Biophysical studies of skeletal tissue. J Bone Joint Surg Am 1956;38-A:1323-1334
100. 3. J Pediatr 1981;99:16-25
101. 3) and phosphate supplementation. Am J Dis Child 1987;141:108-110
102. Verge CF, Lam A, Simpson JM, Cowell CT, Howard NJ, Silink M. Effects of therapy in X-linked hypophosphatemic rickets. N Engl J Med 1991;325:1843-1848
103. Verge CF, Cowell CT, Howard NJ, Donaghue KC, Silink M. Growth in children with X-linked hypophosphataemic rickets. Acta Paediatr 1993;388(Suppl):70-75
104. Makitie O, Doria A, Kooh SW, Cole WG, Daneman A, Sochett E. Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 2003;88:3591-3597
105. Costa T, Marie PJ, Scriver CR, Cole DE, Reade TM, Nogrady B, Glorieux FH, Delvin EE. X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate and bone mineralization. J Clin Endocrinol Metab 1981;52:463-472
106. Harrell RM, Lyles KW, Harrelson JM, Friedman NE, Drezner MK. Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriol. J Clin Invest 1985;75:1858-1868
107. Choufoer JH, Steendijk R. Distribution of the perilacunar hypomineralized areas in cortical bone from patients with familial hypophosphatemic (vitamin D-resistant) rickets. Calcif Tissue Int 1979;27:101-104
108. 3 during childhood. Arch Dis Child 1980;55:49-53
109. Chesney RW, Mazess RB, Rose P, Hamstra AJ, DeLuca HF, Breed AL. Long-term influence of calcitriol (1,25-dihydroxyvitamin D) and supplemental phosphate in X-linked hypophosphatemic rickets. Pediatrics 1983;71:559-567
110. Russell RG, Smith R, Preston C, Walton RJ, Woods CG, Henderson RG, Norman AW. The effect of 1,25-dihydroxycholecalciferol on renal tubular reabsorption of phosphate, intestinal absorption of calcium and bone histology in hypophosphataemic renal tubular rickets. Clin Sci Mol Med 1975;48:177-186
111. 3 on tubular handling of phosphate in hypophosphatemic rickets. J Clin Endocrinol Metab 1984;58:671-675
112. Herweijer TJ, Steendijk R. The relation between attained adult height and the metaphyseal lesions in hypophosphataemic vitamin-D resistant rickets. Acta Paediatr Scand 1985;74:196-200
113. Shields ED, Scriver CR, Reade T, Fujiwara TM, Morgan K, Ciampi A, Schwartz S. X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney. Am J Hum Genet 1990;46:434-442
114. Harrison HE, Harrison HC, Lifshitz F, Johnson AD. Growth disturbance in hereditary hypophosphatemia. Am J Dis Child 1966;112:290-297
115. Stickler GB. Familial hypophosphatemic vitamin D resistant rickets. The neonatal period and infancy. Acta Paediatr Scand 1969;58:213-219
116. Steendijk R, Latham SC. Hypophosphataemic vitamin D-resistant rickets; an observation on height and serum inorganic phosphate in untreated cases. Helv Paediatr Acta 1971;26:179-184
117. Schimert G, Fanconi A. Early history of familial hypophosphataemic vitamin D-resistant rickets. Report of three cases observed since birth. Helv Paediatr Acta 1983;38:383-398
118. Kooh SW, Binet A, Daneman A. Nephrocalcinosis in X-linked hypophosphataemic rickets: its relationship to treatment, kidney function and growth. Clin Invest Med 1994;17:123-130
119. 3. Pediatrics 1980;66:445-454
120. Friedman NE, Lobaugh B, Drezner MK. Effects of calcitriol and phosphorus therapy on the growth of patients with X-linked hypophosphatemia. J Clin Endocrinol Metab 1993;76:839-844
121. Seikaly MG, Browne RH, Baum M. The effect of phosphate supplementation on linear growth in children with X-linked hypophosphatemia. Pediatrics 1994;94:478-481
122. Falls WF, Carter NW, Rector FC, Seldin DW. Familial vitamin D-resistant rickets. Study of six cases with evaluation of the pathogenetic role of secondary hyperparathyroidism. Ann Intern Med 1968;68:553-560
123. Burnett CH, Dent CE, Harper C, Warland BJ. Vitamin D-resistant rickets. Analysis of twenty-four pedigrees with hereditary and sporadic cases. Am J Med 1964;36:222-232
124. Stamp TC, Baker LR. Recessive hypophosphataemic rickets and possible aetiology of the Vitamin D-resistant' syndrome. Arch Dis Child 1976;51:360-365
125. Stamp T, Goldstein AJ. Hypophosphatemic rickets and final height. Lancet 1990;335:536
126. 3 until completion of the growth. Nippon Seikeigeka Gakkai Zasshi 1992;66:1137-1145
127. Berndt M, Ehrich JH, Lazovic D, Zimmermann J, Hillmann G, Kayser C, Prokop M, Schirg E, Siegert B, Wolff G, Brodehl J. Clinical course of hypophosphatemic rickets in 23 adults. Clin Nephrol 1996;45:33-41
128. Miyamoto J, Koto S, Hasegawa Y. Final height of Japanese patients with X-linked hypophosphatemic rickets: effect of vitamin D and phosphate therapy. Endocr J 2000;47:163-167
129. Baroncelli GI, Bertelloni S, Ceccarelli C, Saggese G. Effect of growth hormone treatment on final height, phosphate metabolism and bone mineral density in children with X-linked hypophosphatemic rickets. J Pediatr 2001;138:236-243
130. Stickler GB, Morgenstern BZ. Hypophosphataemic rickets: final height and clinical symptoms in adults. Lancet 1989;2:902-905.
131. Reusz GS, Hoyer PF, Lucas M, Krohn HP, Ehrich JH, Brodehl J. X linked hypophosphataemia: treatment, height gain and nephrocalcinosis. Arch Dis Child 1990;65:1125-1128
132. Scriver CR, Tenenhouse HS, Glorieux FH. X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958. Medicine 1991;70:218-228
133. Baroncelli GI, Bertelloni S, Sodini F, Basiloni V, Saggese G. Final height in treated and untreated patients with X-linked hypophosphatemic rickets. Horm Res 2002;58(Suppl 2):26 (Abstract)
134. Lanes R, Harrison HE. Growth hormone therapy in a poorly growing child with hypophosphatemic rickets. J Endocrinol Invest 1990;13:833-837
135. Bistritzer T, Chalew SA, Hanukoglu A, Armour KM, Haney PJ, Kowarski AA. Does growth hormone influence the severity of phosphopenic rickets? Eur J Pediatr 1990;150:26-29
136. Wilson DM, Lee PD, Morris AH, Reiter EO, Gertner JM, Marcus R, Quarmby VE, Rosenfeld RG. Growth hormone therapy in hypophosphatemic rickets. Am J Dis Child 1991;145:1165-1170
137. Jasper H, Cassinelli H. Growth hormone and insulin-like growth factor I plasma levels in patients with hypophosphatemic rickets. J Pediatr Endocrinol 1993;6:179-184
138. Saggese G, Baroncelli GI, Bertelloni S, Perri G. Growth hormone secretion in poorly growing children with renal hypophosphataemic rickets. Eur J Pediatr 1994;153:548-555
139. Seikaly MG, Baum M. Stimulation of growth hormone secretion in children with X-linked hypophosphatemia. Pediatr Nephrol 1995;9:751-752
140. Haffner D, Wuhl E, Blum WF, Schaefer F, Mehls O. Disproportionate growth following long-term growth hormone treatment in short children with X-linked hypophosphataemia. Eur J Pediatr 1995;154:610-613
141. Shaw NJ, Sharp C, Davie M. Growth hormone and hypophosphataemic rickets. Arch Dis Child 1995;72:543-544
142. Reusz GS, Miltenyi G, Stubnya G, Szabo A, Horvath C, Byrd DJ, Peter F, Tulassay T. X-linked hypophosphatemia: effects of treatment with recombinant human growth hormone. Pediatr Nephrol 1997;11:573-577
143. Soliman AT, alSalmi I. Growth hormone secretion and serum insulin-like growth factor-I concentration in X-linked hypophosphatemic rickets before and after treatment. J Trop Pediatr 1997;43:236-241
144. Cameron FJ, Sochett EB, Daneman A, Kooh SW. A trial of growth hormone therapy in well-controlled hypophosphataemic rickets. Clin Endocrinol 1999;50:577-582
145. Schutt SM, Schumacher M, Holterhus PM, Felgenhauer S, Hiort O. Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency. Eur J Endocrinol 2003;149:317-321
146. Ogle GD, Rosenberg AR, Keiner G. Renal effects of growth hormone. II. Electrolyte homeostasis and body composition. Pediatr Nephrol 1992;6:483-489
147. Saggese G, Baroncelli GI, Federico G, Bertelloni S. Effects of growth hormone on phosphocalcium homeostasis and bone metabolism. Horm Res 1995;44(Suppl 3):55-63
148. Patel L, Clayton PE, Brain C, Pelekouda E, Addison GM, Price DA, Mughal MZ. Acute biochemical effects of growth hormone treatment compared with conventional treatment in familial hypophosphataemic rickets. Clin Endocrinol 1996;44:687-696
149. Darendeliler F, Bas F, Karaaslan N, Hekim N, Bundak R, Saka N, Gunoz H. The effect of growth hormone treatment on biochemical indices in hypophosphatemic rickets. Horm Res 2001;55:191-195
150. Gershbers H, Neumann LL, Mari S. Studies on vitamin D-resistant rickets; effects of human growth hormone. Metabolism 1964;13:636-649
151. Saggese G, Baroncelli GI, Bertelloni S, Perri G. Long-term growth hormone treatment in children with renal hypophosphatemic rickets: effects on growth, mineral metabolism and bone density. J Pediatr 1995;127:395-402
152. Seikaly MG, Brown R, Baum M. The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. Pediatrics 1997;100:879-884
153. Saggese G, Baroncelli GI, Barsanti S. Growth hormone treatment of familial hypophosphatemic rickets. Arch Pediatr 1998;5(Suppl 4):360S-363S
154. Wilson DM, Olney RC, Tyerman G, Lee PDK, Klingensmith GJ, Chan JCM, Shah B, Shulman DI, Mahoney CP, Kaufman E. Growth hormone and X-linked hypophosphatemic rickets: five years of therapy. Bone 1998;23:S652 (Abstract).
155. Wilson DM. Growth hormone and hypophosphatemic rickets. J Pediatr Endocrinol Metab 2000;13(Suppl 2):993-998
156. Baroncelli GI, Bertelloni S, Perri G, Saggese G. Association between X-linked hypophosphatemic rickets and Klinefelter's syndrome: effects on growth and body proportion. Hum Genet 1995;95:581-585
157. 3 production in hypophysectomized rats. Eur J Endocrinol 2002;146:97-105
158. Alon U, Chan JC. Effects of hydrochlorothiazide and amiloride in renal hypophosphatemic rickets. Pediatrics 1985;75:754-763
159. Paunier L, Kooh SW, Conen PE, Gibson AA, Fraser D. Renal function and histology after long-term vitamin D therapy of vitamin D refractory rickets. J Pediatr 1968;73:833-844
160. Moncrieff MW, Chance GW. Nephrotoxic effect of vitamin D therapy in vitamin D refractory rickets. Arch Dis Child 1969;44:571-579
161. Alon U, Brewer WH, Chan JC. Nephrocalcinosis: detection by ultrasonography. Pediatrics 1983;71:970-973
162. Jequier S, Cramer B, Goodyer P, Kronick J, Reade T. Renal ultrasound in metabolic bone disease. Pediatr Radiol 1986;16:135-139
163. Goodyer PR, Kronick JB, Jequier S, Reade TM, Scriver CR. Nephrocalcinosis and its relationship to treatment of hereditary rickets. J Pediatr 1987;111:700-704
164. Weber G, Cazzuffi MA, Frisone F, de Angelis M, Pasolini D, Tomaselli V, Chiumello G. Nephrocalcinosis in children and adolescents: sonographic evaluation during long-term treatment with 1,25-dihydroxycholecalciferol. Child Nephrol Urol 1988-89;9:273-276
165. Reusz GS, Latta K, Hoyer PF, Byrd DJ, Ehrich JH, Brodehl J. Evidence suggesting hyperoxaluria as a cause of nephrocalcinosis in phosphate-treated hypophosphataemic rickets. Lancet 1990;335:1240-1243
166. Alon U, Lovell HB, Donaldson DL. Nephrocalcinosis, hyperparathyroidism and renal failure in familial hypophosphatemic rickets. Clin Pediatr 1992;31:180-183
167. Schonaue E, Kruse K, Bohles HJ, Sewed AC. More evidence for hyperoxaluria in phosphate-treated X-linked familial hypophosphataemic rickets. Eur J Pediatr 1992;151:390
168. Seikaly M, Browne R, Baum M. Nephrocalcinosis is associated with renal tubular acidosis in children with X-linked hypophosphatemia. Pediatrics 1996;97:91-93
169. Patzer L, van't Hoff W, Shah V, Hallson P, Kasidas GP, Samuell C, de Bruyn R, Barratt TM, Dillon MJ. Urinary supersaturation of calcium oxalate and phosphate in patients with X-linked hypophosphatemic rickets and in healthy schoolchildren. J Pediatr 1999;135:611-617
170. Makitie O, Kooh SW, Sochett E. Prolonged high-dose phosphate treatment: a risk factor for tertiary hyperparathyroidism in X-linked hypophosphatemic rickets. Clin Endocrinol 2003;58:163-168
171. Sanchez A, Gonzalez A, Ferretti JL, Menichini A, Carretto H. Urinary saturation among phosphate-treated children with hypophosphataemic rickets. Lancet 1991;338:521-522
172. 2-induced renal azotemia. Bone 1997;21:515-520
173. Alon U, Donaldson DL, Hellerstein S, Warady BA, Harris DJ, Metabolic and histologic investigation of the nature of nephrocalcinosis in children with hypophosphatemic rickets and in the Hyp mouse. J Pediatr 1992;120:899-905
174. Seikaly MG, Baum M. Thiazide diuretics arrest the progression of nephrocalcinosis in children with X-linked hypophosphatemia. Pediatrics 2001;108:E6
175. Patriquin H, Robitaille P. Renal calcium deposition in children: sonographic demonstration of the Anderson-Carr progression. AIR Am J Roentgenol 1986;146:1253-1256
176. Reitz RE, Weinstein RL. Parathyroid hormone secretion in familial vitamin-D-resistant rickets. N Engl J Med 1973;289:941-945
177. Bettinelli A, Bianchi ML, Mazzucchi E, Gandolini G, Appiani AC. Acute effects of calcitriol and phosphate salts on mineral metabolism in children with hypophosphatemic rickets. J Pediatr 1991;118:372-376
178. Rivkees SA, el-Hajj-Fuleihan G, Brown EM, Crawford JD. Tertiary hyperparathyroidism during high phosphate therapy of familial hypophosphatemic rickets. J Clin Endocrinol Metab 1992;75:1514-1518
179. Knudtzon J, Halse J, Monn E, Nesland A, Nordal KP, Paus P, Seip M, Sund S, Sodal G. Autonomous hyperparathyroidism in X-linked hypophosphataemia. Clin Endocrinol 1995;42:199-203
180. Wu CJ, Song YM, Sheu WH. Tertiary hyperparathyroidism in X-linked hypophosphatemic rickets. Intern Med 2000;39:468-471
181. Firth RG, Grant CS, Riggs BL. Development of hypercalcemic hyperparathyroidism after long-term phosphate supplementation in hypophosphatemic osteomalacia. Report of two cases. Am J Med 1985;78:669-673
182. Carpenter TO, Mitnick MA, Ellison A, Smith C, Insogna KL. Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. J Clin Endocrinol Metab 1994;78:1378-1383
183. Savio RM, Gosnell JE, Posen S, Reeve TS, Delbridge LW. Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets. Arch Surg 2004;139:218-222
184. Indridason OS, Quarles LD. Tertiary hyperparathyroidism and refractory secondary hyperparathyroidism. In: Favus MJ, ed Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. Phidadelphia, Lippincott Williams & Wilkins, 1999;198-202
185. Carpenter TO, Keller M, Schwartz D, Mitnick M, Smith C, Ellison A, Carey D, Comite F, Horst R, Travers R, Glorieux FH, Gundberg CM, Poole AR, Insogna KL. 24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets-a clinical research center study. J Clin Endocrinol Metab 1996;81:2381-2388
186. Moncrieff MW. Early biochemical findings in familial hypophosphataemic, hyperphosphaturic rickets and response to treatment. Arch Dis Child 1982;57:70-72
187. 3 therapy in symptomatic adults with X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 1992;75:879-885
188. Hardy DC, Murphy WA, Siegel BA, Reid IR, Whyte MP. X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. Radiology 1989;171:403-414
189. Ferris B, Walker C, Jackson A, Kirwan E. The orthopaedic management of hypophosphataemic rickets. J Pediatr Orthop 1991;11:367-373
190. Choi IH, Kim JK, Chung CY, Cho TJ, Lee SH, Suh SW, Whang KS, Park HW, Song KS. Deformity correction of knee and leg lengthening by Ilizarov method in hypophosphatemic rickets: outcomes and significance of serum phosphate level. J Pediatr Orthop 2002;22:626-631
191. Dudkiewicz I, Schindler A, Ganel A. Elongation of long bones for short stature in patients with hypophosphatemic rickets. Isr Med Assoc J 2003;5:66-67
192. Prinster C, Weber G, Beccio S, Meneghel M, Mora S, Chiumello G. Post-surgical metabolic imbalance in adolescents with renal hypophosphatemic rickets. J Pediatr Endocrinol Metab 2000;13:657-658
193. Baroncelli GI, Bertelloni S, Saggese G. Good metabolic control prevents post-surgical imbalance of mineral metabolism in patients with X-linked hypophosphatemic rickets. J Pediatr Endocrinol Metab 2001;14:223-224