Peco-Antic A, Dudic S, Marsenic O, Zivic G
University Children's Hospital, Belgrade.
Srp Arh Celok Lek. 2001 May-Jun;129(5-6):139-42.
We report on two cases of Bartter's syndrome, together with the review of current literature on the aetiology, development and treatment of Bartter's syndrome. Bartter's syndrome belongs to a group of hypokalaemic renal channelopathies, which are caused by a molecular hereditary disorder of ion channels in renal tubules. 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. Neonatal form is found in newborns and is characterized by foetal polyuria, premature birth, postnatal episodes of severe dehydration, growth retardation, hypercalciuria and early nephrocalcinosis. It is the result of mutation of a gene responsible for renal tubular Na-K-2Cl cotransport or another gene which controls the ATP-dependant potassium channel (ROMK). Classic form is found in young children with polyuria, hypokalaemia and growth retardation. This type is caused by a defect of a gene for chloride channel (CIC-Kb) in the distal tubule. Gitelman's syndrome is found in late childhood or adolescence. It is caused by mutation in the gene for Na-Cl co-transport in the distal tubule. Children with Gitelman's syndrome occasionally have muscle weakness or tetany, hypokalaemia and hypomagnesaemia. Even though there have been advances in understanding the aetiology and pathogenesis of Bartter's syndrome in the recent years, the possibilities and strategies for its management remained almost the same. Treatment is based on prostaglandin inhibitors, potassium sparing diuretics and substitution therapy.
我们报告了两例巴特综合征病例,并对当前有关巴特综合征的病因、发展及治疗的文献进行了综述。巴特综合征属于一组低钾性肾通道病,由肾小管离子通道的分子遗传性疾病引起。这些通道位于细胞膜的脂质层,作为离子运输的水通道存在。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。新生儿型见于新生儿,其特征为胎儿多尿、早产、出生后严重脱水发作、生长发育迟缓、高钙尿症和早期肾钙质沉着症。这是负责肾小管钠 - 钾 - 2 氯协同转运的基因或另一个控制ATP依赖性钾通道(ROMK)的基因突变的结果。经典型见于患有多尿、低钾血症和生长发育迟缓的幼儿。此类型由远端小管中氯离子通道(CIC-Kb)基因缺陷引起。吉特曼综合征见于儿童晚期或青少年期。它由远端小管中钠 - 氯协同转运基因的突变引起。患有吉特曼综合征的儿童偶尔会出现肌肉无力或手足搐搦、低钾血症和低镁血症。尽管近年来在理解巴特综合征的病因和发病机制方面取得了进展,但其管理的可能性和策略几乎保持不变。治疗基于前列腺素抑制剂、保钾利尿剂和替代疗法。