Katz Family Division of Nephrology and Hypertension, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL.
Department of Otolaryngology-Head and Neck Surgery, University of Miami Miller School of Medicine, University of Miami Ear Institute, Miami, FL.
Adv Kidney Dis Health. 2024 May;31(3):170-179. doi: 10.1053/j.akdh.2024.02.004.
Alport syndrome (AS) is characterized by progressive kidney failure, hematuria, sensorineural hearing loss, and ocular abnormalities. Pathogenic variants in the COL4A3-5 genes result in a defective deposition of the collagen IV α3α4α5 protomers in the basement membranes of the glomerulus in the kidney, the cochlea in the ear and the cornea, lens capsule and retina in the eye. The presence of a large variety of COL4A3-5 gene(s) pathogenetic variants irrespective of the mode of inheritance (X-linked, autosomal recessive, autosomal dominant, or digenic) with and without syndromic features is better defined as the "Alport spectrum disorder", and represents the most common cause of genetic kidney disease and the second most common cause of genetic kidney failure. The clinical course and prognosis of individuals with AS is highly variable. It is influenced by gender, mode of inheritance, affected gene(s), type of genetic mutation, and genetic modifiers. This review article will discuss the epidemiology, classification, pathogenesis, diagnosis, clinical course with genotype-phenotype correlations, and current and upcoming treatment of patients with AS. It will also review current recommendations with respect to when to evaluate for hearing loss or ophthalmologic abnormalities.
Alport 综合征（AS）的特征是进行性肾衰竭、血尿、感觉神经性听力损失和眼部异常。COL4A3-5 基因的致病性变异导致肾脏肾小球基底膜、耳朵耳蜗和角膜、晶状体囊和视网膜中胶原 IV α3α4α5 三聚体的沉积缺陷。存在大量不同的 COL4A3-5 基因突变（无论遗传方式（X 连锁、常染色体隐性、常染色体显性或双基因）如何）伴有或不伴有综合征特征，更好地定义为“Alport 谱障碍”，是遗传性肾脏疾病最常见的原因，也是遗传性肾衰竭的第二大常见原因。AS 个体的临床病程和预后高度可变。它受性别、遗传方式、受影响的基因、基因突变类型和遗传修饰剂的影响。本文综述了 AS 的流行病学、分类、发病机制、诊断、与基因型-表型相关性的临床病程以及当前和未来的治疗方法。还回顾了关于何时评估听力损失或眼科异常的当前建议。
