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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >MULTIPLE GENETIC MECHANISMS IN VITAMIN D-RESISTANT RICKETS
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MULTIPLE GENETIC MECHANISMS IN VITAMIN D-RESISTANT RICKETS

机译:维生素D抗性RICK病的多种遗传机制

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摘要

VITAMIN D-resistant rickets of the "simple" type is one of the most commonly encountered forms of metabolic bone disease in modern pediatric practice. In this disorder, rickets similar to that due to vitamin D deficiency develops in the face of usually adequate amounts of vitamin D and heals only with massive and sustained doses of the vitamin. Biochemically, the cardinal abnormality is hypophosphatemia, apparently the result of diminished tubular reabsorption of phosphate from the glomerular filtrate. Whether the renal abnormality is based upon a primary defect within the tubule cell or is a secondary effect, as for example from secondary hyperparathyroidism, is not yet known.
机译:“简单”型维生素D抵抗性D病是现代儿科实践中最常见的代谢性骨病形式之一。在这种疾病中,面对通常由于维生素D缺乏而引起的病,通常在面对足够量的维生素D时会发生,并且只有大量且持续地服用维生素才能治愈。从生化角度看,主要异常是低磷酸盐血症,这显然是肾小球滤过液中磷酸盐对肾小管的重吸收减少的结果。尚不清楚肾脏异常是基于肾小管细胞内的主要缺陷还是继发性作用,例如继发于甲状旁腺功能亢进。

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