Cas Lek Cesk. 2022 Summer;161(3-4):131-134.
Bartter and Gitelman syndromes belong to salt-losing tubulopathies. These rare diseases may be associated with severe electrolyte disorders. Early identification of tubulopathies is essential for appropriate management. Progress in molecular genetics enabled the identification of genes and pathophysiologic mechanisms associated with these diseases. Here, we review etiology and diagnostics of these disorders from the light of current knowledge. Additionally, we discuss contemporary therapeutic approaches.
巴特综合征和吉特曼综合征属于失盐性肾小管疾病。这些罕见疾病可能与严重的电解质紊乱有关。早期识别肾小管疾病对于适当的治疗至关重要。分子遗传学的进步使人们能够识别与这些疾病相关的基因和病理生理机制。在这里，我们根据目前的知识回顾这些疾病的病因和诊断，并讨论当代的治疗方法。
