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논문분류	춘계학술대회 초록집
제목	Alport Syndrome
저자	Judith Savige
출판정보	2024; 2024(1):
키워드
초록	Alport syndrome Judy Savige Alport syndrome is a genetic kidney disease that affects the kidney and sometimes the hearing and the eyes. The commonest forms are X-linked (XL) and autosomal dominant (AD) disease which affect one in 2000 and one in 100 of the population respectively. XL disease is due to a pathogenic variant in COL4A5 and is characterised by haematuria, kidney failure, hearing loss and ocular abnormalities (lenticonus and fleck retinopathy). However the hearing loss can be treated with hearing aids and vision is not usually affected. Kidney cysts also occur and may contribute to kidney failure. Most affected males with XL disease have kidney failure by the age of 40 and 20 - 30% of affected women have kidney failure by 60. In general males with XL disease due to a null variant have more severe clinical features. Proteinuria is a poor prognostic marker for women. AD Alport syndrome is often due to a heterozygous pathogenic variant in COL4A3 or COL4A4 and the clinical features are much more variable ranging from none to haematuria, proteinuria and kidney failure even for the same variant. Hearing loss and ocular features are not found. Treatment for both XL and AD disease currently aims to minimise proteinuria with RAAS blockade, and, if necessary, SGLT2 inhibitors. Affected boys with XL disease should start treatment from the time of diagnosis. Affected females with XL disease and individuals with AD Alport syndrome should commence treatment from the onset of proteinuria. Many more treatments including those specific for variant types such as truncating variants are on the horizon.
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