University College London-Centre for Nephrology, Royal Free Hospital Pond Street, London, NW3 2QG, UK.
Pediatr Nephrol. 2013 Aug;28(8):1183-93. doi: 10.1007/s00467-012-2399-y. Epub 2013 Jan 17.
Hematuria is a common presenting feature of glomerular disease and is sometimes associated with kidney failure later in life. Where isolated microscopic hematuria occurs in children and young adults, an underlying monogenic disorder, such as Alport syndrome or thin basement membrane nephropathy, is frequently responsible. In this review, these and other diseases, which often present with isolated microscopic hematuria, including hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome, IgA nephropathy, and CFHR5 nephropathy, are discussed together with the associated molecular pathology, clinical features, and prognosis. Genetic testing for these conditions used in clinical practice can provide important diagnostic and prognostic information that is relevant to the patient and their family, particularly when kidney transplantation is considered.
血尿是肾小球疾病的常见表现，有时与日后的肾衰竭有关。在儿童和青年中出现孤立性镜下血尿时，常与 Alport 综合征或薄基底膜肾病等单基因疾病有关。在本综述中，我们将讨论这些疾病以及其他常表现为孤立性镜下血尿的疾病，包括遗传性血管病、肾病、动脉瘤和肌肉痉挛（HANAC）综合征、IgA 肾病和 CFHR5 肾病，以及相关的分子病理学、临床特征和预后。这些疾病的临床实践中使用的基因检测可以提供重要的诊断和预后信息，与患者及其家属密切相关，特别是在考虑肾移植时。
