대한신장학회

Skip Navigation: Skip to contents

KOR
ENG
전체메뉴보기

간행물 검색

현재 페이지 경로

HOME
간행물
간행물 검색

논문분류	춘계학술대회 초록집
제목	Alport Syndrome: A Case Report
저자	Abigayle Therese Guiritan
출판정보	2024; 2024(1):
키워드
초록	Alport syndrome is a rare hereditary disease characterized by progressive glomerulonephritis, progressive high-tone hearing loss, and visual impairment. Early diagnosis and intervention can delay the progression of disease and improve the quality of life in these patients. We present a case of a 23 year old male, non hypertensive, non diabetic, with no family history of kidney disease coming in for proteinuria. During pre-employment check-up, patient was noted to have 4+ proteinuria on urinalysis. Creatinine was requested by company doctor with result of 1.05mg/dL (eGFR 104 ml/min/1.73m2). Repeat urinalysis done but still with 4+ proteinuria on urinalysis. Hence, advised consult with a nephrologist due to persistence of frothy urine and proteinuria. Upon consult, work ups were done which revealed hyperuricemia, urate crystals on urinalysis, persistence of 4+ proteinuria and urine protein creatinine ratio of 2.8 mg/dL. Patient was started on ACE inhibitor, hypouricemic agent and advised kidney biopsy for further evaluation of proteinuria. The review of systems was pertinent for hearing impairment and blurring of vision. Kidney biopsy was done in which electron microscopy showed segmental podocyte foot process effacement. The glomerular basement membrane shows lamellation and alternate thickening and thinning. No definite electron-dense deposits are seen in glomerular basement membrane and mesangium. Mean glomerular basement membrane thickness is 299 nm (normal mean glomerular basement membrane thickness in adult males is 373 +/- 42 nm). He was advised consult with an ophthalmologist and otolaryngologist. Regular checkup, monitoring of renal parameters, and appropriate medications were given. In conclusion, thorough history, physical examination and characteristic findings on kidney biopsy can help in the prompt diagnosis of the disease. Multidisciplinary care and early intervention can improve the quality of life and delay the progression to kidney failure in these patients.
원문(PDF)	PDF 원문보기

목록

위로가기