논문제목: A comprehensive review of Alport syndrome: definition, pathophysiology, clinical manifestations, and diagnostic considerations

공동 제1저자: 강은정, 박병화

공동저자: 이하정,강희경,김지현,김예나,정연순,임학

교신저자: 신호식 

초록: 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.