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Г. Лечение1. Экспериментальные модели. Теоретически возможны следующие подходы к лечению остеопетроза: а. Поскольку остеокласты — это клетки моноцитарно-макрофагального ростка, можно стимулировать пролиферацию и дифференцировку собственных гемопоэтических клеток — предшественников остеокластов. б. Можно активировать собственные остеокласты цитокинами. в. Можно заместить дефектные остеокласты нормальными путем трансплантации гемопоэтических клеток. В опытах на грызунах с генетически детерминированным остеопетрозом (мыши op/op и крысы tl/tl) показали, что болезнь может быть излечена путем инъекций макрофагального колониестимулирующего фактора. У животных других линий удалось активировать остеокласты с помощью интерферона гамма. Остеопетроз у мышей линии gray-lethal исчезает после трансплантации клеток селезенки или костного мозга. 2. Трансплантация костного мозга HLA-идентичных доноров в настоящее время все шире применяется для лечения новорожденных и грудных детей с тяжелым остеопетрозом. У нескольких реципиентов лечебный эффект трансплантации сохранялся в течение 4 лет. 3. Имеются сообщения об успешном лечении остеопетроза макрофагальным колониестимулирующим фактором, интерфероном гамма, кальцитриолом и ПТГ. Литература 1. Broner CW, et al. Hypermagnesemia and hypocalcemia as predictors of high mortality in critically ill pediatric patients. Crit Care Med 18:921, 1990. 2. Burritt MF, et al. Pediatric reference intervals for 19 biologic variables in healthy children [see comments] Mayo Clin Proc 65:329, 1990. 3. Byers PH, et al. Osteogenesis imperfecta: Translation of mutation to phenotype. J Med Genet 28:433, 1991. 4. Clark AG, et al. Safety and efficacy of calcium carbonate in children with chronic renal failure. Nephrol Dial Transplant 4:539, 1989. 5. Coccia PF, et al. Successful bone marrow transplantation for infantile malignant osteopetrosis. New Engl J Med 300:701, 1980. 6. Cohn DH, et al. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am J Hum Genet 46:591, 1990. 7. Colletti RB, et al. Detection of hypocalcemia in susceptible neonates: The Q-oTc Interval. New Engl J Med 290:931, 1974. 8. Culler FL, et al. Impaired calcitonin secretion in patients with Williams syndrome. J Pediatr 107:720, 1985. 9. Dent CE, Friedman M. Idiopathic juvenile osteoporosis. Q J Med 34:177, 1966. 10. Forman DT, Lorenzo L. Ionized calcium: Its significance and clinical usefulness. Ann Clin Lab Sci 21:297, 1991. 11. Garabedian M, et al. Elevated plasma 1,25 dihydroxyvitamin D concentrations in infants with hypercalcemia and an elfin facies. New Engl J Med 312:948, 1985. 12. Gershanick JJ, et al. The association of hypocalcemia and recurrent apnea in premature infants. Am J Dis Child 113:646, 1972. 13. Gertner JM, Disorders of bone and mineral metabolism. In BE Clayton, JM Round, (eds) Chemical Pathology and the Sick Child. Oxford: Blackwell, 1984. P. 367. 14. Gertner JM, Root L. Osteogenesis Imperfecta. In JM Lane (ed) Pathologic Fractures in Metabolic Bone Disease. Orthopedic Clin N Am 20:151, 1990. 15. Glorieux FH, et al. Induction of bone resorption by parathyroid hormone in congenital malignant osteopetrosis. Metab Bone Dis Relat Res 3:143, 1981. 16. Hochman N, et al. Reversal of immune dysfunction in osteopetrotic rats by interferon-gamma: Augmentation of macrophage Ia expression and lymphocyte interleukin-2 production and proliferation. Cell Immunol 137:14, 1991. 17. Holland PC, et al. Prenatal deficiency of phosphate, phosphate supplementation, and rickets in very-low-birthweight infants. Lancet 335:697, 1990. 18. Hughes MR, et al. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 242:1702, 1988. 19. Key L, et al. Treatment of congenital osteopetrosis with high-dose calcitriol. N Engl J Med 310:409, 1984. 20. Key LL Jr, et al. Long-term treatment of osteopetrosis with recombinant human interferon gamma. N Engl J Med 332:1594, 1995. 21. Krabbe S, et al. Bone mineral homeostasis, bone growth, and mineralization during years of pubertal growth: A unifying concept. Arch Dis Child 57:359, 1982. 22. Lajeunesse D, et al. Demonstration of an osteoblast defect in two cases of human malignant osteopetrosis. Correction of the phenotype after bone marrow transplant. J Clin Invest 98:1835, 1996. 23. Levine MA, et al. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Comm 94:1319, 1980. 24. Madyastha PR, et al. Cytophilic immunoglobulin G binding on neutrophils from a child with malignant osteopetrosis who developed fatal acute respiratory distress mimicking transfusion-related acute lung injury. Am J Hematol 53:196, 1996. 25. Marini JC, et al. Evaluation of growth hormone axis and responsiveness to growth stimulation of short children with osteogenesis imperfecta. Am J Med Genet 45:261, 1993. 26. Marx SJ, et al. Familial hypocalciuric hypercalcemia: Mild expression of the gene. Am J Med 78:15, 1985. 27. Matsuoka LY, et al. Racial pigmentation and the cutaneous synthesis of vitamin D. Arch Dermatol 127:536, 1991. 28. McLean FC, Hastings AB. Clinical estimation and significance of calcium ion concentration in the blood. Am J Med Sci 189:601, 1935. 29. Nesbit T, et al. Crosstransplantation of kidneys in normal and hyp mice. Evidence that the hyp mouse phenotype is unrelated to an intrinsic renal defect. J Clin Invest 89:1453, 1992. 30. Nussbaum SR, et al. Highly sensitive two-site immunoradiometric assay of parathyrin, and its clinical utility in evaluating patients with hypercalcemia. Clin Chem 33:1364, 1987. 31. Osborne LR, et al. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics 36:328, 1996. 32. Patten JL, et al. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med 322:1412, 1990. 33. Payne RB, et al. Letter: Correction of plasma calcium measurements. Br Med J 1(904):393, 1974. 34. Rowe JC, et al. Nutritional hypophosphatemic rickets in a premature infant fed breast milk. New Engl J Med 300:293, 1979. 35. Rowe PS. Molecular biology of hypophosphatemic rickets and oncogenic osteomalacia. Hum Genet 94:457, 1994. 36. Russo AF, et al. Characterization of the calcitonin/CGRP gene in Williams syndrome. Am J Med Genet 39:28, 1991. 37. Sillence DO. Osteogenesis imperfecta: an expanding panorama of variance. Clin Orthop 191:11, 1981. 38. Specker BL, et al. Low serum calcium and high parathyroid hormone levels in neonates fed "humanized" cow's milk-based formula. Am J Dis Child 145:941, 1991. 39. Stewart AF, et al. Calcium homeostasis in immobilization: An example of resorptive hypercalciuria. N Engl J Med 306:1136, 1982. 40. Thoene JG. Cystinosis. J Inherit Metab Dis 18:380, 1995. 41. Troughton O, Singh SP. Heart failure and neonatal hypocalcemia. Br Med J 4:76, 1972. 42. Verge CF, et al. Effects of therapy in X-linked hypophosphatemic rickets. N Engl J Med 325:1843, 1991. 43. Walton RJ, Bijvoet OLM. Nomogram for derivation of renal threshold phosphate concentration. Lancet 2:309, 1975. 44. Zaloga GP. Hypocalcemia in critically ill patients. Crit Care Med 20:251, 1992. VI. Болезни щитовидной железы Глава 27. Оценка функции щитовидной железы П. Сингер Дата добавления: 2015-02-05 | Просмотры: 1005 | Нарушение авторских прав |