Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Department of Pediatrics, University of Connecticut School of Medicine, Farmington, and Nephrology, Connecticut Children's Medical Center, Hartford, CT.
Adv Chronic Kidney Dis. 2022 May;29(3):292-307. doi: 10.1053/j.ackd.2021.11.004.
Recent advances in the management of kidney tubular diseases have resulted in a significant cohort of adolescents and young adults transitioning from pediatric- to adult-focused care. Most of the patients under adult-focused care have glomerular diseases, whereas rarer tubular diseases form a considerable proportion of pediatric patients. The purpose of this review is to highlight the clinical signs and symptoms of tubular disorders, as well as their diagnostic workup, including laboratory findings and imaging, during young adulthood. We will then discuss more common disorders such as cystinosis, cystinuria, distal kidney tubular acidosis, congenital nephrogenic diabetes insipidus, Dent disease, rickets, hypercalciuria, and syndromes such as Bartter, Fanconi, Gitelman, Liddle, and Lowe. This review is a practical guide on the diagnostic and therapeutic approach of tubular conditions affecting young adults who are transitioning to adult-focused care.
近年来，肾脏管状疾病的治疗取得了重大进展，这使得一大批青少年和年轻成年人从儿科治疗转向成人治疗。大多数接受成人治疗的患者患有肾小球疾病，而罕见的管状疾病则构成了相当一部分儿科患者。本文旨在强调管状疾病的临床症状和体征，以及它们在年轻成年期的诊断方法，包括实验室发现和影像学检查。然后，我们将讨论更常见的疾病，如胱氨酸病、胱氨酸尿症、远端肾小管酸中毒、先天性肾性尿崩症、Dent 病、佝偻病、高钙尿症以及 Bartter、Fanconi、Gitelman、Liddle 和 Lowe 综合征等。本文是一份实用指南，介绍了影响年轻成年人的管状疾病的诊断和治疗方法，这些患者正在向成人治疗过渡。
Zotero 插件