Korean Journal of Nephrology 1993;12(3):440-451.

Alport 증후군 12예의 임상적 고찰

이준수 , 박임재 , 배기수 , 이재승 , 김병길 , 최윤정 , 정현주 , 최인준

Abstract

Clinical observations were mask on 12 children with Alports syndrome who were diagnosed and followed up at Pediatric Department, Yonsei University during the last 13 years, beginning from Jan. 1980 to June 1993. Nine were male and three female. The age at the time of manisfetation of renal disease was between 1 year and 10 years, the mean age was 3.8 years. Family history was noted in 7 patients, two were brother and sister and the other two were brothers. The first presenting symptoms were gross hematuria in 7 patients, facial edema in 2, gross hematuria with edema and microscopic hematuria, proteinuria, hearing disturbance in one each. All had microscopic hematuria during the follow up course of disease. More than 1 gram of urine protein per day was observed in 11 patients and 3 werem more than 3 gram. Hearing impairment was observed in 7 patients, six were male and 1 female, and was discovered at the average of 5.8 years from the first renal manifestation. Hypertension was observed in 6 patients and 6 were developed to chronic renal failure. Progression of chronic renal failure was observed in 4 male and 2 female at the average of 4.9 years of first renal manifestations. Ocular abnormalities of bilateral cataract were in one, platelet abnormality and genitourinary tract anomaly were not observed. Light microscopic findings of renal biopsy ranged from normal to fibrosis, tubular atrophy and the foam cells with the progression of disease and aging. Immuno- fluorescent study was negative except that focal deposit of IgM and 4 was deposited in 2 patients. Electron microscopic finding of thinning was observed in 1 5/12 years of boy and thickening of glomerular basement membrane with splitting, duplication and electron-dense granules were observed in 6 patients. Renal transplanta- tion was operated in all 7 patients, 6 were chronic chronic renal failure and 1 was renat syndrome, unre- sponse to therapy. 2 rejections were observed at 6 and 15 months each, one has died 9 months later and the other one has been in care of continuous ambulatory peritoneal dialysis, 5 patients are in normal renal function and now in follow up.