Department of Medicine, Pediatrics, Hospital Universitario Central de Asturias, University of Oviedo, Oviedo, Asturias, Spain.
Pediatr Nephrol. 2023 Mar;38(3):635-642. doi: 10.1007/s00467-022-05546-w. Epub 2022 May 11.
The clinical manifestations of primary distal renal tubular acidosis usually begin in childhood, but the disease is caused by a genetic defect that persists throughout life. This review focuses on the complications of distal tubular acidosis that occur or remain long-term such as nephrocalcinosis and urolithiasis, growth impairment, bone mineralization, severe hypokalemia, kidney cysts, and progressive kidney failure, as well as other persistent manifestations that occur independent of acidosis but are associated with some inherited forms of the disease. The pathogenic factors responsible for kidney failure are discussed in particular because it is a complication to which different publications have recently drawn attention and which affects a high percentage of adults with primary distal renal tubular acidosis. The need to maintain optimal metabolic control of the disease and scheduled clinical follow-up throughout life and the importance of organizing protocols for the transition of patients to adult nephrology services are emphasized.
原发性远端肾小管性酸中毒的临床表现通常始于儿童期,但该病是由终生存在的遗传缺陷引起的。本综述重点介绍了远端肾小管性酸中毒长期存在或发生的并发症,如肾钙质沉着症和尿路结石、生长障碍、骨矿化、严重低钾血症、肾囊肿和进行性肾衰竭,以及与酸中毒无关但与某些遗传性疾病形式相关的其他持续表现。特别讨论了导致肾衰竭的发病因素,因为这是最近不同出版物引起关注的并发症,它影响了很大一部分原发性远端肾小管性酸中毒的成年患者。强调了需要维持疾病的最佳代谢控制,并在整个生命周期内进行定期临床随访,以及为患者向成人肾脏病服务过渡制定方案的重要性。