Yabe R, Mizuno K, Ojima M, Ogawa S, Tani M, Niimura S, Watari H, Kunii N, Suenaga K, Yatabe Y
Department of Internal Medicine, Fukushima Medical College, Japan.
J Med. 1987;18(5-6):333-49.
A description is given of a girl with the non-salt-losing type of congenital adrenal hyperplasia (CAH) and with Bartter's syndrome. In addition, the patient had a balanced translocation between 6q and 9p. Although the possibility cannot be ruled out fully that an excess of progesterone might modify the renin-aldosterone axis to some extent, the finding that dexamethasone therapy improved the clinical features of CAH but failed to correct metabolic disorders in electrolyte balance strongly suggests the coexistence of the two clinical entities. Chloride transport at the distal tubule was impaired moderately in the patient, which suggests that her defective reabsorption of chloride was responsible for the impaired renal handling of sodium that is often observed in patients with Bartter's syndrome. It appears that the reciprocal translocation is unrelated to both CAH and Bartter's syndrome since the same translocation was found in her healthy mother and siblings.
描述了一名患有非失盐型先天性肾上腺皮质增生症（CAH）和巴特综合征的女孩。此外，该患者在6号染色体长臂（6q）和9号染色体短臂（9p）之间存在平衡易位。尽管不能完全排除过量孕酮可能在一定程度上改变肾素 - 醛固酮轴的可能性，但地塞米松治疗改善了CAH的临床特征但未能纠正电解质平衡的代谢紊乱这一发现强烈提示这两种临床病症并存。该患者远端小管的氯离子转运中度受损，这表明她对氯离子的重吸收缺陷是巴特综合征患者中常见的钠处理受损的原因。由于在她健康的母亲和兄弟姐妹中发现了相同的易位，似乎这种相互易位与CAH和巴特综合征均无关。
