Clinical Observations on 12 Children with Alport Syndrome

Bae, Young-Min; Kim, Seoung-Do; Kang, Hyeon-Ho; Cho, Byoung-Soo

J Korean Soc Pediatr Nephrol > Volume 4(1); 2000 > Article

J Korean Soc Pediatr Nephrol 2000;4(1): 48-56.

Alport 증후군 환아 12명의 임상적 고찰

배영민, 김성도, 강현호, 조병수

¹경희의대 소아과학교실
²경희의대 소아과학교실
³경희의대 소아과학교실
⁴경희의대 소아과학교실

Clinical Observations on 12 Children with Alport Syndrome

Young-Min Bae, Seoung-Do Kim, Hyeon-Ho Kang, Byoung-Soo Cho

¹Department of Pediatrics, Kyunghee University, College of Medicine
²Department of Pediatrics, Kyunghee University, College of Medicine
³Department of Pediatrics, Kyunghee University, College of Medicine
⁴Department of Pediatrics, Kyunghee University, College of Medicine

ABSTRACT

Purpose: Alport SD., the most common herectitary rephriris, is a renal disease with rapid progression. Deafness, ocular abnormalities and a specific EM finding may be associated in addition to a family history. We have aralyged retrospectively.
Methods: We observed 12 children with Alport syndrome who were diagnosed at Dept. of pediatrics in Kyunghee Univ., College of Medicine, from Apr. 1991 until Jun. 1999. We used four criteria for diagnosis: renal disease, family history, deafness or eye abnormalities, and a specific finding in electron microscopy
Results : 2 of 12 patients had all features of the four diagnostic criteria. We could not trace an exact family history in 3 patients, and 6 patients did not exhibit deafness or eye abnormality. One could not have renal biopsy because offer chronic renal failure. Other three criteria were observed in her. The ratio of male to female observed was 1:2 respectively and the mean age of initial renal symptom was 5.6 years. 9 of 12 patients had a family history of renal disease. In the audiogram and ocular examination for 11 of 12 cases, sensorineural hearing loss was observed in 6 and ocular abnormality in 2 cases. In electron microscopic finding, irregular thickness of the capillary basement membranes with lamination of lamina densa and foot process obliteration was noted in 9 of 11 and thin basement membrane with splitting and foot process obliteration was noted in the other 2. The mean period of follow-up was 3 6/12 years. And one patient developed the chronic renal failure until now and had kidney transplantation.
Conclusion : For the diagnosis of Alport syndrome, the following four diagnostic criteria are very important : renal disease, family history, deafness or eye abnormalities, and a specific finding on electron microscopy. We expect that more patients can be detected through the analysis of these characteristics.

Key words: Hereditary nephritis | Deafness | Eye abnormalities | Electron microscopy