Severe Familial Hypophosphatemic Rickets: Normal Growth Following Early Treatment

Edgar J. Schoen; James B. Reynolds

doi:10.1001/archpedi.1970.02100060092014

Schoen, Edgar J.;Reynolds, James B.

1970-07-01 00:00:00

Abstract In 1966, one of us (E.J.S.) reported the case of a 19-month-old boy in whom familial hypophosphatemic vitamin D resistant rickets (VDRR) was diagnosed on the first day of life.1 Starting at age 3 months, when his disease was demonstrated to be severe, he received vitamin D in therapeutic doses. Normal growth ensued; at 19 months the child's height was near the 50th percentile, and leg-to-torso ratio was normal. We were unable to discover other instances in which VDRR was diagnosed and treated before crawling initiates weightbearing at about age 6 months. We therefore recommended that attempts be made to identify and treat infants with VDRR within the first few months of life in order to learn whether deformity and shortness of the legs could be prevented by early treatment. In the present paper, we are summarizing the progress of our patient to age 5 years 8 months. The References 1. Schoen EJ: The question of normal height in patients with vitamin D-resistant rickets . JAMA 195:524-526, 1966.Crossref 2. Harrison HE, Harrison HC, Lifshitz F, et al: Growth disturbance in hereditary hypophosphatemia . Amer J Dis Child 112:290-297, 1966. 3. Stickler GB: Familial hypophosphatemic vitamin D resistant rickets . Acta Paediat Scand 58: 213-219, 1969.Crossref 4. McNair SL, Stickler GB: Growth in familial hypophosphatemic vitamin-D-resistant rickets . New Eng J Med 281:511-516, 1969.Crossref 5. Moncrieff MW, Chance GW: Nephrotoxic effect of vitamin D therapy in vitamin D refractory rickets . Arch Dis Child 44:571-579, 1969.Crossref 6. Bullock JK: The physiologic variations in the inorganic blood phosphorus content at the different age periods: An attempt to explain these in the growing child . Amer J Dis Child 40:725-740, 1930.Crossref 7. Todd WR, Chuinard RH, Wood MT: Blood calcium and phosphorus in the newborn . Amer J Dis Child 57:1278-1287, 1939. 8. Gittleman IF, Pincus JB: Influence of diet on the occurrence of hyperphosphatemia and hypocalcemia in the newborn infant . Pediatrics 8:778-786, 1951. 9. Graham GG, Barness LA, György P: Serum calcium and inorganic phosphate in the newborn infant, and their relation to different feedings . J Pediat 42:401-408, 1953.Crossref 10. Greenberg BG, Winters RW, Graham JB: The normal range of serum inorganic phosphorus and its utility as a discriminant in the diagnosis of congenital hypophosphatemia . J Clin Endocr 20: 364-379, 1960.Crossref 11. Fomon SJ: Infant Nutrition. Philadelphia, WB Saunders Co, 1967, Table 9-6, p 148. 12. Bruck E, Weintraub DH: Serum calcium and phosphorus in premature and full-term infants: Longitudinal study in the first 3 weeks of life . Amer J Dis Child 90:653-668, 1955. 13. Tapia J, Stearns G, Ponseti IV: Vitamin D-resistant rickets: A long-term clinical study of 11 patients . J Bone Joint Surg 46A:935-958, 1964. 14. Schoen EJ: Growth in familial hypophosphatemic rickets . New Eng J Med 281:1195, 1969.Crossref 15. Stickler GB: Reply to Letter to the Editor . New Eng J Med 281:1196, 1969. 16. Frame B, Smith RW Jr, Fleming JL, et al: Oral phosphates in vitamin-D-refractory rickets and osteomalacia . Amer J Dis Child 106:147-153, 1963. 17. West CD, Blanton JC, Silverman FN, et al: Use of phosphate salts as an adjunct to vitamin D in the treatment of hypophosphatemic vitamin D refractory rickets . J Pediat 64:469-477, 1964.Crossref 18. DeLuca HF: 25-Hydroxycholecalciferol, the probably metabolically active form of vitamin D . Amer J Clin Nutr 22:412-424, 1969. 19. DeLuca HF: Current concepts: Vitamin D . New Eng J Med 281:1103-1104, 1969.Crossref 20. Vitamin D: Another frontier, editorial . JAMA 210:550-551, 1969.Crossref

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American Journal of Diseases of Children American Medical Association

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Severe Familial Hypophosphatemic Rickets: Normal Growth Following Early Treatment

$Abstract In 1966, one of us (E.J.S.) reported the case of a 19-month-old boy in whom familial hypophosphatemic vitamin D resistant rickets (VDRR) was diagnosed on the first day of life.1 Starting at age 3 months, when his disease was demonstrated to be severe, he received vitamin D in therapeutic doses. Normal growth ensued; at 19 months the child's height was near the 50th percentile, and leg-to-torso ratio was normal. We were unable to discover other instances in which VDRR was diagnosed and treated before crawling initiates weightbearing at about age 6 months. We therefore recommended that attempts be made to identify and treat infants with VDRR within the first few months of life in order to learn whether deformity and shortness of the legs could be prevented by early treatment. In the present paper, we are summarizing the progress of our patient to age 5 years 8 months. The References 1. Schoen EJ: The question of normal height in patients with vitamin D-resistant rickets . JAMA 195:524-526, 1966.Crossref 2. Harrison HE, Harrison HC, Lifshitz F, et al: Growth disturbance in hereditary hypophosphatemia . Amer J Dis Child 112:290-297, 1966. 3. Stickler GB: Familial hypophosphatemic vitamin D resistant rickets . Acta Paediat Scand 58: 213-219, 1969.Crossref 4. McNair SL, Stickler GB: Growth in familial hypophosphatemic vitamin-D-resistant rickets . New Eng J Med 281:511-516, 1969.Crossref 5. Moncrieff MW, Chance GW: Nephrotoxic effect of vitamin D therapy in vitamin D refractory rickets . Arch Dis Child 44:571-579, 1969.Crossref 6. Bullock JK: The physiologic variations in the inorganic blood phosphorus content at the different age periods: An attempt to explain these in the growing child . Amer J Dis Child 40:725-740, 1930.Crossref 7. Todd WR, Chuinard RH, Wood MT: Blood calcium and phosphorus in the newborn . Amer J Dis Child 57:1278-1287, 1939. 8. Gittleman IF, Pincus JB: Influence of diet on the occurrence of hyperphosphatemia and hypocalcemia in the newborn infant . Pediatrics 8:778-786, 1951. 9. Graham GG, Barness LA, György P: Serum calcium and inorganic phosphate in the newborn infant, and their relation to different feedings . J Pediat 42:401-408, 1953.Crossref 10. Greenberg BG, Winters RW, Graham JB: The normal range of serum inorganic phosphorus and its utility as a discriminant in the diagnosis of congenital hypophosphatemia . J Clin Endocr 20: 364-379, 1960.Crossref 11. Fomon SJ: Infant Nutrition. Philadelphia, WB Saunders Co, 1967, Table 9-6, p 148. 12. Bruck E, Weintraub DH: Serum calcium and phosphorus in premature and full-term infants: Longitudinal study in the first 3 weeks of life . Amer J Dis Child 90:653-668, 1955. 13. Tapia J, Stearns G, Ponseti IV: Vitamin D-resistant rickets: A long-term clinical study of 11 patients . J Bone Joint Surg 46A:935-958, 1964. 14. Schoen EJ: Growth in familial hypophosphatemic rickets . New Eng J Med 281:1195, 1969.Crossref 15. Stickler GB: Reply to Letter to the Editor . New Eng J Med 281:1196, 1969. 16. Frame B, Smith RW Jr, Fleming JL, et al: Oral phosphates in vitamin-D-refractory rickets and osteomalacia . Amer J Dis Child 106:147-153, 1963. 17. West CD, Blanton JC, Silverman FN, et al: Use of phosphate salts as an adjunct to vitamin D in the treatment of hypophosphatemic vitamin D refractory rickets . J Pediat 64:469-477, 1964.Crossref 18. DeLuca HF: 25-Hydroxycholecalciferol, the probably metabolically active form of vitamin D . Amer J Clin Nutr 22:412-424, 1969. 19. DeLuca HF: Current concepts: Vitamin D . New Eng J Med 281:1103-1104, 1969.Crossref 20. Vitamin D: Another frontier, editorial . JAMA 210:550-551, 1969.Crossref$

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Severe Familial Hypophosphatemic Rickets: Normal Growth Following Early Treatment

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Severe Familial Hypophosphatemic Rickets: Normal Growth Following Early Treatment

Severe Familial Hypophosphatemic Rickets: Normal Growth Following Early Treatment

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