Hypophosphatemic rickets accompanying congenital microvillous atrophy

Journal of Bone and Mineral Research

Volumn 13, Issue 12, 1998, Pages 1946-1952

  Kagitani, Kuriko ^a   Yamamoto, Takehisa ^a,b,c   Miki, Kazunori ^a   Matsumoto, Sayuri ^a   Shima, Masaaki ^a   Tajiri, Hitoshi ^a   Harada, Tokuzo ^a   Okada, Shintaro ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b Kaizuka City Hospital   (Japan)

^c Minoh City Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; PHOSPHATE;

ARTICLE; CASE REPORT; DIARRHEA; DISEASE ASSOCIATION; DISEASE SEVERITY; HUMAN; HYPERCALCIURIA; HYPOPHOSPHATEMIA; INTESTINE ABSORPTION; LEG PAIN; MALE; MICROVILLUS ATROPHY; PATHOGENESIS; PHOSPHATE INTAKE; RICKETS; SCHOOL CHILD; VOMITING; X RAY PICTURE;

EID: 0031788914     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.1998.13.12.1946     Document Type: Article

References (30)

1. Glorieux FH 1996 Hypophosphatemic vitamin D-resistant rickets. In: Favus MJ (ed.) Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 3rd Ed. Lippincott-Raven, Philadelphia, PA, U.S.A., pp. 316-319.
2. Frost HM 1958 Some observations on bone mineral in a case of vitamin D resistant rickets. Henry Ford Hosp Med Bull 6:300-310.
3. Ecarot-Charrier B, Glorieux FH, Traverse R, Desbarats M, Bouchard F, Hinek A 1988 Defective bone formation by transplanted HYP mouse bone cells into normal mice. Endocrinology 123:768-773.
4. 3. Bone 13:209-215.
5. Eicher EM, Southard JL, Scriver CR, Glorieux FH 1976 Hypophosphatemia: Mouse model for human familial hypophosphatemia (vitamin D resistant) rickets. Proc Natl Acad Sci USA 73:4667-4671.
6. Rasmussen H, Tenenhouse HS 1995 Mendelian hypophosphatemia. In: Scriver CR (ed.) Metabolic Basis of Inherited Disease, 7th Ed. McGraw Hill, New York, NY, U.S.A., pp. 3717-3745.
7. The HYP, Consortium. 1995 A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 11:130-136.
8. 2+ metalloprotease). Hum Mol Genet 6:539-549.
9. Beck L, Soumounou Y, Martel J, Krishnamurthy G, Gauthier C, Grodyer CG, Tenenhouse HS 1997 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 99: 1200-1209.
10. Guo R, Quarles LD 1997 Cloning and sequencing of human PEX from a bone cDNA library: Evidence for its developmental stage-specific regulation in osteoblasts. J Bone Miner Res 12:1009-1017.
11. Du L, Desbarats M, Viel J, Glorieux FH, Cawthorn C, Ecarot B 1996 cDNA cloning of the murine Pex gene implicated on X-linked hypophosphatemia and evidence for expression in bone. Genomics 36:22-28.
12. Lajeunesse D, Meyer RA Jr, Hamel L 1996 Direct demonstration of a humorally-mediated inhibition of renal phosphate transport in the HYP mouse. Kidney Int 50:1531-1538.
13. Econs MJ, Drezner MK 1994 Tumor-induced osteomalacia: Unveiling a new hormone. N Engl J Med 330:1679-1681.
14. Tieder M, Modai D, Samuel R, Arie R, Halabe A, Bab I, Gabizon D, Lieberman UA 1985 Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 312:611-617.
15. Tieder M, Modai D, Shaked U, Samuel R, Arie R, Halabe A, Maor J, Weissgarten J, Averbukh Z, Cohn N, Edelsein S, Lieberman UA 1987 Idiopathic hypercalciuria and hereditary hypophosphatemic rickets: Two phenotypical expressions of a common genetic defect. N Engl J Med 316:125-129.
16. Davidson GP, Cutz E, Hamilton JR, Gall DG 1978 Familial enteropathy: A syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy. Gastroenterology 75:783-790.
17. Phillips AD, Jenkins P, Raafat F, Walker-Smith JA 1985 Congenital microvillous atrophy: Specific diagnostic features. Arch Dis Child 60:135-140.
18. Cutz E, Rhoads JM, Drumm B, Sherman PM, Dune PR, Forstner GG 1989 Microvillous inclusion disease: An inherited defect of brush-border assembly and differentiation. N Engl J Med 320:646-651.
19. Rhoads JM, Vogler RC, Lacey SR, Reddick RL, Keku EO, Azizkhan RG, Berschneider HM 1991 Microvillous inclusion disease. Gastroenterology 100:811-817.
20. Phillips A, Fransen J, Harui HP, Sterchi E 1993 The constitutive exocytic pathway in microvillous atrophy. J Pediatr Gastroenterol Nutr 17:239-246.
21. Yamaoka K, Tanaka H, Kurose H, Shima M, Ozono K, Nakajima S, Seino Y 1989 Effect of single oral phosphate loading on vitamin D metabolites in normal subjects and in X-linked hypophosphatemic rickets. Bone Miner 7:159-169.
22. Brandborg LL, Rubin GE, Quinton WE 1959 A multipurpose instrument for suction biopsy of the esophagus, stomach, small bowel and colon. Gastroenterology 37:1-16.
23. Kimura S, Nose O, Harada T, Maki I, Kanaya S, Tajiri H, Shimizu K, Yamaoka K, Seino Y, Yabuuchi H, Itakura T, Takagi Y, Okada A 1986 Serum levels of vitamin D metabolisms in children receiving total parenteral nutrition. J Parenter Enteral Nutr 10:191-194.
24. Drezner MK 1996 Tumor-induced rickets and osteomalacia. In: Favus MJ (ed.) Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 3rd Ed. Lippincott-Raven Press, Philadelphia, PA, U.S.A., pp. 319-325.
25. Shields HM 1978 Rapid fall of serum phosphorus secondary to antacid therapy. Gastroenterology 75:1137-1141.
26. Phillips AD, Schmitz J 1992 Familial microvillous atrophy: A clinicopathological survey of 23 cases. J Pediatr Gastroenterol Nutr 14:380-396.
27. Tieder M, Arie R, Bab I, Maor J, Lieberman UA 1992 A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: Implications for correct diagnosis and treatment. Nephron 62:176-181.
28. Tieder M, Arie R, Modai D, Samuel R, Weissgarten J, Liberman UA 1988 Elevated serum 1,25-dihydroxyvitamm D concentrations in siblings with primary Fanconi's syndrome. N Engl J Med 319:845-849.
29. Vezzoli G, Zerbi S, Baragetti I, Soldati G, Mora S, Dell'Antonio G, Bianchi G 1997 Nonacidotic proximal tubulopathy transmitted as autosamal dominant trait. Am J Kidney Dis 29:490-495.
30. Cutz E, Thorner P, Sherman P 1988 Microvillous inclusion disease (MID) - Generalized defect of brush border membranes. Lab Invest 58:3P (abstract).