关键词: 肾小管疾病, 诊断和治疗, 基因检测, 儿童

Abstract:

Renal tubule disease is a kind of disease caused by various primary and/or secondary factors, which leads to abnormal structure, function and cell metabolism of the renal tubule. To date, there is no consensus on the classification of renal tubular diseases. We preliminarily classify renal tubular diseases according to their course, causes, involved sites, types of substance transport disorder, and the unified name of human genome organization. A unified and standardized classification is helpful for clinical diagnosis and treatment of renal tubular diseases. Due to the diversity of its clinical manifestations in children, the lack of specific symptoms, the slow progress of the disease, and the limited laboratory diagnostic methods, the lack of understanding of such diseases, misdiagnosis and mistreatment occur frequently in clinic. Thus, early recognition of renal tubular diseases is crucial. The early diagnosis of renal tubular diseases depends on the detailed inquiry of medical history, careful observation of clinical symptoms and signs, and the data of relevant laboratory, imaging examinations and genetic analysis. In addition, multidisciplinary cooperation is valuable to improve the prognosis of renal tubular diseases.

Key words: tubular disease, diagnosis and treatment, genetic testing, child