Department of Renal Medicine, Tan Tock Seng Hospital, Singapore, Singapore.
Medicine, Duke-NUS Medical School, Singapore, Singapore.
Br J Hosp Med (Lond). 2024 Oct 30;85(10):1-12. doi: 10.12968/hmed.2024.0290. Epub 2024 Oct 14.
Renal tubular acidosis is a group of disorders characterised by metabolic acidosis, hyperchloraemia, normal anion gap, and potassium imbalance. Genetic mutations, drugs or acquired disorders disrupt the function of various transport proteins and enzymes in the renal tubules, causing diminished bicarbonate reabsorption or inability to excrete hydrogen ions, leading to proximal (type 2) and distal (type 1) renal tubular acidosis, respectively. These conditions are typically associated with hypokalaemia, which, if severe, can cause muscle paralysis and dangerous cardiac arrhythmias. A rare mixed variant (type 3), including features of both type 1 and type 2 renal tubular acidosis, has also been described. On the other hand, aldosterone deficiency or resistance leads to the hyperkalaemic form of renal tubular acidosis (type 4). If untreated, renal tubular acidosis can lead to long-term severe complications such as growth retardation, osteoporosis, rickets, osteomalacia, and renal calculi. Moreover, renal tubular acidosis might be the initial presentation of a more severe underlying pathology, such as autoimmune disease or plasma cell dyscrasias. A better understanding of the condition can help physicians diagnose and treat it early and prevent adverse outcomes.
肾小管性酸中毒是一组以代谢性酸中毒、高氯血症、正常阴离子间隙和钾失衡为特征的疾病。遗传突变、药物或获得性疾病会破坏肾脏小管中各种转运蛋白和酶的功能，导致重碳酸盐吸收减少或无法排出氢离子，分别导致近端（2 型）和远端（1 型）肾小管性酸中毒。这些病症通常与低钾血症有关，如果严重，可能导致肌肉麻痹和危险的心律失常。也已经描述了一种罕见的混合变异型（3 型），其具有 1 型和 2 型肾小管性酸中毒的特征。另一方面，醛固酮缺乏或抵抗导致高钾型肾小管性酸中毒（4 型）。如果不治疗，肾小管性酸中毒可能导致长期严重的并发症，如生长迟缓、骨质疏松症、佝偻病、骨软化症和肾结石。此外，肾小管性酸中毒可能是自身免疫性疾病或浆细胞异常等更严重潜在病理的初始表现。更好地了解该病症可以帮助医生早期诊断和治疗，并预防不良后果。
