Familial Hypophosphatemic Rickets: Defective Transport of Inorganic Phosphate by Intestinal Mucosa
Familial Hypophosphatemic Rickets: Defective Transport of Inorganic Phosphate by Intestinal Mucosa
复制标题
家族性低磷性佝偻病：肠粘膜无机磷酸盐运输缺陷
作者：
E. M. Short;H. Binder;L. Rosenberg
X-连锁家族性低磷血症佝偻病的半合子男性和杂合子女性的肠粘膜对无机磷的摄取是不稳定的。在受影响的患者中观察到无机磷酸盐摄取的相当大的家族内和家族间变化。正常粘膜的摄取是集中的和能量依赖性的，并且由至少两种具有广泛不同亲和力的系统介导。这些结果提供了直接支持的论点，在这种疾病的主要代谢紊乱的结果，在肾脏和肠道的无机磷酸盐转运受损。
Uptake of inorganic phosphate is impared in intestinal mucosa from hemizygous males and heterozygous females with X-linked familial hypophosphatemic rickets. Considerable intrafamilial and interfamilial variation in uptake of inorganic phosphate is observed in affected patients. Uptake by normal mucosa is concentrative and energy-dependent, and is mediated by at least two systems with widely different affinities. These results lend direct support to the thesis that the primary metabolic disturbance in this disease results from impaired transport of inorganic phosphate in kidney and gut.