Early detection of infants with hypophosphatemic vitamin D resistant rickets (HDRR)

Endocrine Journal

Volumn 43, Issue 3, 1996, Pages 339-343

  Minamitani, Kanshi ^a   Minagawa, Masanori ^a   Yasuda, Toshiyuki ^a   Niimi, Hiroo ^a  

^a CHIBA UNIVERSITY   (Japan)

Author keywords

Early detection; Hypophosphatemic vitamin D resistant rickets; Percentage of tubular reabsorption of phosphorus

Indexed keywords

HYDROXYCOLECALCIFEROL; PHOSPHATE;

ARTICLE; BLOOD; CASE REPORT; FEMALE; HUMAN; HYPOPHOSPHATEMIA; INFANT; KNEE; MALE; NEWBORN; ONSET AGE; PROSPECTIVE STUDY; RADIOGRAPHY; RICKETS; TREATMENT OUTCOME; VITAMIN D DEFICIENCY; WRIST;

AGE OF ONSET; FEMALE; HUMANS; HYDROXYCHOLECALCIFEROLS; HYPOPHOSPHATEMIA; INFANT; INFANT, NEWBORN; KNEE; MALE; PHOSPHATES; PROSPECTIVE STUDIES; RICKETS; TREATMENT OUTCOME; VITAMIN D DEFICIENCY; WRIST;

EID: 0030154971     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.43.339     Document Type: Article

References (9)

1. Fraser D, Scriver CR (1989) Hereditary rickets and osteomalacia associated with abnormalities in vitamin D metabolism (calcipenic rickets) or phosphate homeostasis (phosphopenic rickets). In: Degroot LJ (ed) Endocrinology. W. B. Saunders Company, 1080-1094.
2. Glorieux FH (1993) Hypophosphatemic vitamin D resistant rickets. In: Favus MJ (ed) Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. Raven Press, New York, 279-282.
3. Walton RJ, Bijvoet OLM (1975) Nomogram for derivation of renal threshold phosphate concentration. Lancet 2: 309-310.
4. Moncrieff MW (1982) Early biochemical findings in familial hypophosphatemic, hyperphosphaturic rickets and response to treatment. Arch Dis Child 57: 70-72.
5. Roza M, Miguel MA, Galbe M, Mejido L, Mencia C (1983) Early treatment of familial hypophosphatemic rickets. Arch Dis Chid 58: 1020-1022.
6. Stickler GB (1969) Familial hypophosphatemic vitamin D resistant rickets. The neonatal period and infancy. Acta Paediatr Scand 58: 213-219.
7. Schoen EJ, Reynolds JB (1970) Severe familial hypophosphatemic rickets: Normal growth following early treatment. Am J Dis Child 120: 58-61.
8. The HYP Consortium (1995) A gene (PEX) with homologies to endopeptidases is muated in patients with X-linked hypophosphatemic rickets. Nature Genetics 11: 130-136.
9. Petersen DJ, Boniface AM, Schranck FW, Rupich RC, Whyte MP (1992) X-linked hypophosphatemic rickets: A study (with literature review) of linear growth response to calcitriol and phosphate therapy. J Bone Miner Res 7: 583-597.