Kang Eunjeong, Park Byung Hwa, Lee Hajeong, Kang Hee Gyung, Kim Ji Hyun, Kim Ye Na, Jung Yeonsoon, Rim Hark, Shin Ho Sik
Transplantation Center, Seoul National University Hospital, Seoul, Republic of Korea.
Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
Kidney Res Clin Pract. 2024 Sep 26. doi: 10.23876/j.krcp.24.065.
Alport syndrome, a rare genetic disorder affecting around 1 in 50,000 individuals, primarily presents as microscopic hematuria and chronic kidney disease (CKD) with associated extrarenal complications. The Alport syndrome results from mutations in COL4A3, COL4A4, and COL4A5 genes, disrupting the formation of the α3-α4-α5 chain in the collagen IV network. The etiology involves X chromosome-related, autosomal dominant, autosomal recessive, and digenic inheritance patterns. The disease primarily manifests as kidney involvement, featuring persistent hematuria, proteinuria, and a progressive decline in renal function. Hearing loss, ocular abnormalities, and extrarenal manifestations further contribute to its complexity. Genotype-phenotype correlations are relatively evident, with distinct presentations in X-linked, autosomal recessive, and autosomal dominant cases. Diagnosis relies on urinalysis, histologic examination, and genetic testing with advancements in next-generation sequencing aiding identification. Although no specific treatment exists, early diagnosis improves outcomes, emphasizing the importance of genetic testing for prognosis and familial screening. The purpose of this review is to advance knowledge and enhance understanding of Alport syndrome.
奥尔波特综合征是一种罕见的遗传性疾病，每5万人中约有1人受其影响，主要表现为镜下血尿和慢性肾脏病（CKD），并伴有肾外并发症。奥尔波特综合征由COL4A3、COL4A4和COL4A5基因突变引起，破坏了IV型胶原网络中α3-α4-α5链的形成。其病因涉及X染色体相关、常染色体显性、常染色体隐性和双基因遗传模式。该疾病主要表现为肾脏受累，特征为持续性血尿、蛋白尿以及肾功能进行性下降。听力丧失、眼部异常和肾外表现进一步加剧了其复杂性。基因型-表型相关性相对明显，在X连锁、常染色体隐性和常染色体显性病例中有不同表现。诊断依赖于尿液分析、组织学检查和基因检测，新一代测序技术的进步有助于识别。虽然没有特效治疗方法，但早期诊断可改善预后，强调了基因检测对预后和家族筛查的重要性。本综述的目的是增进对奥尔波特综合征的认识和理解。
