Clinical observations wee mask on 12 children with Alport's syndrome who were diagnosed and followed up at Fediatric Department, Yonsei University during the last 13 years, beginning from Jan. 1980 to June `993.
Nine wee male and three female. The 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 protein per day was
observed
in 11
patients and 3 were 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 vears of first renal manifestations.
Ocular abnormalities of bilateral ctaract were in one, platelet abnormality and genitourinary tract anomaly were not observed.
Lignt microscopic findings of renal biopsy ranged from normal to fibrosis, tubular atrophy and the foam cells with the progression of disease and aging. Immunofluorescent study was negative except that focal deposit of IgM and C3 was deposted in
2
patients. Electron microscopic finding of thinning was observed in 15/12 years of boy and thickening of glomerular basement membrane with splitting, duplication and electron-dense granules were observed in 6 patients. Renal transplantation was
operated
in all 7 patients, 6 were chronic chronic renal failure and 1 was renal syndrome, unresponse 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.
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