대한신장학회

Skip Navigation: Skip to contents

KOR
ENG
전체메뉴보기

간행물 검색

현재 페이지 경로

HOME
간행물
간행물 검색

논문분류	춘계학술대회 초록집
제목	Features of Autosomal Recessive Alport Syndrome: A Systematic Review
저자	Jiwon Lee, Kandai Nozu, Dae Eun Choi, Hee Gyung Kang, Hae Il Cheong
출판정보	2019; 2019(1):
키워드	Alport syndrome \| Autosomal \| Systematic review \| COL4A3 gene \| COL4A4 gene
초록	Alport syndrome is a major hereditary nephritis leading to end-stage renal disease (ESRD). Although X-linked inheritance is the most common form, cases with autosomal recessive inheritance with mutations in COL4A3 or COL4A4 are being increasingly recognized. A systematic review was conducted on autosomal recessive (ARAS, OMIM 203780) form of Alport syndrome. Electronic databases were searched using related terms (till Oct 10th, 2018). Information regarding clinical manifestation and genotypes was collected. The results were peer-reviewed. From 1601 articles searched, there were 26 eligible studies with 148 patients. Female and male patients were equally affected. About 62% of patients had ESRD, 64% had sensorineural hearing loss (SNHL) and 17% had ocular manifestation. The median at onset was 2.5 years for hematuria, 21 years for ESRD, and 13 years for SNHL. Patients with no missense mutations had more grave outcomes at earlier ages, while those who had one or two missense mutations had delayed onset of age and lower prevalence of extrarenal manifestations. Of 49 patients available for electron microscopy pathology, 42 (86%) had typical glomerular basement membrane (GBM) changes, while 5 (10%) patients showed GBM thinning only. Autosomal Alport syndrome requires clinical suspicion and close follow-up. SNHL seem to develop earlier than previously reported. There was a genotype-phenotype correlation according to the number of missense mutations. Possessing missense mutations had delayed onset of age and lower prevalence of extrarenal manifestations.
원문(PDF)	PDF 원문보기

목록

위로가기