[Clinical and pathological features of Alport syndrome in children].
OBJECTIVE
To study the clinical and pathological features of Alport syndrome in children.


METHODS
The clinical and histopathological data of 10 hospitalized children with Alport syndrome from February 2007 to February 2009 were retrospectively reviewed.


RESULTS
There were 7 males and 3 females, with the age ranging from 2 years to 6 years and 7 months (mean 3 years and 2 months). Five of 10 cases had positive family history. X-linked dominant inheritance Alport syndrome was diagnosed in 8 cases, and autosomal recessive inheritance Alport syndrome in 2 cases. Recurrent gross hematuria was found in 5 cases, hematuria and proteinuria in 3 cases, massive proteinuria in 1 case, and nephritic syndrome in 1 case. Under the light microscope, 8 cases presented with mesangial proliferation glomerulonephritis, and 2 cases with focal segmental glomerulosclerosis. Immunofluorescence assay showed that all cases had IgM deposition in glomerulus. Only 1 case showed typical glomerular basement membrane (GBM) pathological changes. All cases showed abnormal alpha-chain distribution in renal collagen IV.


CONCLUSIONS
The children with Alport syndrome have diverse clinical manifestations. Characteristic histopathological presentations could not be found under a light microscope, mesangial proliferation glomerulonephritis is the dominant pathological change, and IgM deposition in glomerulus is common. The GBM pathological change in children is not common. Immunofluorescence assay of alpha-chain in collagen IV is needed for the diagnosis of Alport syndrome.
Zhu
Chun-Hua
CH
Department of Nephrology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing 210008, China.
Huang
Song-Ming
SM
Wu
Hong-Mei
HM
Bao
Hua-Ying
HY
Chen
Ying
Y
Han
Yuan
Y
Zhao
Fei
F
Zhang
Ai-Hua
AH
Zhang
Wei-Zhen
WZ
D002648:Child; D002675:Child, Preschool; D024141:Collagen Type IV / Q000235:genetics; D005260:Female; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D009394:Nephritis, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*
D024141:Collagen Type IV