Department of Nephrology, National Clinical Research Center for Child Health, The Children's Hospital, Zhejiang University School of Medicine, #57 Zhugan Lane, Hangzhou 310006, China.
World J Pediatr. 2021 Jun;17(3):227-233. doi: 10.1007/s12519-021-00417-0. Epub 2021 Feb 24.
Hereditary renal tubular disease can cause hypercalciuria, acid-base imbalance, hypokalemia, hypomagnesemia, rickets, kidney stones, etc. If these diseases are not diagnosed or treated in time, they can cause kidney damage and electrolyte disturbances, which can be detrimental to the maturation and development of the child. Glomerular involvement in renal tubular disease patients has only been considered recently.
We screened 71 papers (including experimental research, clinical research, etc.) about Dent's disease, Gitelman syndrome, and cystinosis from PubMed, and made reference.
Glomerular disease was initially underestimated among the clinical signs of renal tubular disease or was treated merely as a consequence of the tubular damage. Renal tubular diseases affect glomerular podocytes through certain mechanisms resulting in functional damage, morphological changes, and glomerular lesions.
This article focuses on the progress of changes in glomerular podocyte function in Dent disease, Gitelman syndrome, and cystinosis for the purposes of facilitating clinically accurate diagnosis and scientific treatment and improving prognosis.
遗传性肾小管疾病可引起高钙尿、酸碱失衡、低钾血症、低镁血症、佝偻病、肾结石等。如果这些疾病不能及时诊断或治疗，可能会导致肾脏损伤和电解质紊乱，从而不利于儿童的成熟和发育。肾小球受累在肾小管疾病患者中最近才被考虑。
我们从 PubMed 中筛选了 71 篇关于 Dent 病、Gitelman 综合征和胱氨酸病的论文（包括实验研究、临床研究等），并进行了参考。
在肾小管疾病的临床体征中，肾小球疾病最初被低估，或者仅仅被视为肾小管损伤的结果。肾小管疾病通过某些机制影响肾小球足细胞，导致功能损伤、形态改变和肾小球病变。
本文重点介绍 Dent 病、Gitelman 综合征和胱氨酸病中肾小球足细胞功能变化的研究进展，旨在促进临床准确诊断和科学治疗，改善预后。
