PDF(Pubmed)
Abstract：
Renal tubular acidosis (RTA) is a rare disorder that can be inherited or acquired, and results in an inability of the kidneys to maintain normal acid-base balance. We present a case of recurrent, severe hypokalaemia and rhabdomyolysis in a young woman who had an associated normal anion gap metabolic acidosis and was subsequently diagnosed with distal RTA associated with Hashimoto\'s thyroiditis. Distal RTA associated with Hashimoto\'s thyroiditis is rare and probably develops because of autoimmune-mediated mechanisms, causing an inability of the H+-ATPase pump in alpha-intercalated cells of the cortical collecting duct to secrete H+, with subsequent failure of urinary acidification. In this case, this hypothesis was supported by the exclusion of common genetic mutations associated with distal RTA. We illustrate that utilizing a systematic, physiology-based approach for challenging electrolyte and acid-base disorders enables identification of the root cause and underlying disease mechanisms.
摘要：
肾小管性酸中毒（RTA）是一种罕见的疾病，可以遗传或获得性，并导致肾脏无法维持正常的酸碱平衡。我们提出了一个反复发作的病例，1名年轻女性患有严重低钾血症和横纹肌溶解症,该女性患有相关的正常阴离子间隙代谢性酸中毒,随后被诊断为与桥本甲状腺炎相关的远端RTA。与桥本甲状腺炎相关的远端RTA很少见，可能是由于自身免疫介导的机制而发展的。导致皮质集合管的α-插入细胞中的H+-ATPase泵不能分泌H+，随后尿酸化失败。在这种情况下,排除与远端RTA相关的常见基因突变支持了这一假设.我们说明了利用一个系统的，以生理学为基础的方法来挑战电解质和酸碱紊乱,能够识别根本原因和潜在的疾病机制.
