Addolorato G, Ancarani F, Leggio L, Abenavoli L, de Lorenzi G, Montalto M, Staffolani E, Zannoni G F, Costanzi S, Gasbarrini G
Department of Internal Medicine, Catholic University of Rome, Rome, Italy.
Panminerva Med. 2006 Jun;48(2):137-42.
Bartter's syndrome belongs to a group of hypokalemic renal channel diseases. These channels are located in the lipid layer of cell membranes where they exist as water channels through which ion transport is performed. Based on the type of genetic disorder and clinical presentation, Bartter's syndrome is classified as neonatal, classical and Gitelman's syndrome. Most of the cases have been noted in pediatric age groups and adult-onset cases are very rare. Moreover, an association between Bartter's syndrome and empty sella has recently been reported in 3 children. We report here the second case of an adult patient affected by Bartter's syndrome with partial empty sella. The patient showed some clinical and histological characteristics of both classic Bartter's syndrome and Gitelman's syndrome, suggesting that genotype and phenotype of Bartter's syndrome are not so clear-cut and that phenotypic overlap may occur, according to a recent hypothesis. Magnetic resonance imaging disclosed a partial empty sella. A thorough endocrinological investigation showed normal hypophyseal, thyroidal, adrenal and gonadal function. Good therapeutic effects were achieved using spironolactone, ACE-inhibitor and potassium supplementation, with normalization of the kalemia. At present, the value of the association of Bartter's syndrome and empty sella remains unclear and future studies are needed to clarify the importance of this association, both in children and in adult patients affected by Bartter's syndrome.
巴特综合征属于一组低钾性肾通道疾病。这些通道位于细胞膜的脂质层，作为水通道存在，通过它们进行离子转运。根据遗传疾病类型和临床表现，巴特综合征分为新生儿型、经典型和吉特曼综合征。大多数病例见于儿童年龄组，成人发病的病例非常罕见。此外，最近有报道称3例儿童患有巴特综合征并伴有空蝶鞍。我们在此报告第二例患有巴特综合征并伴有部分空蝶鞍的成年患者。该患者表现出经典巴特综合征和吉特曼综合征的一些临床和组织学特征，这表明根据最近的假说，巴特综合征的基因型和表型并非如此明确，可能会出现表型重叠。磁共振成像显示部分空蝶鞍。全面的内分泌检查显示垂体、甲状腺、肾上腺和性腺功能正常。使用螺内酯、血管紧张素转换酶抑制剂和补充钾后取得了良好的治疗效果，血钾恢复正常。目前，巴特综合征与空蝶鞍关联的价值仍不清楚，需要进一步研究以阐明这种关联在巴特综合征患儿和成年患者中的重要性。
