Report Of A Family With Alport Syndrome

Objective To analyse the characteristics of the clinical features and laboratory results of a family with Alport syndrome and analyse their inheritance pattern. Method The clinical biochemistry test and special detection of eye and ear of all persons in the family who are alive were detected, their genomic DNA were analyzed by polymerase chain reaction and the direct sequencing. Results The family belongs to X-linked dominant inheritance pattern. The morbidity rate of AS in the family is 66.7% . The morbidity rate of proteinuia and ocular lesions is 61.1% and 55.5% respectively .The morbidity rate of fixed local atrophy of the iris is 70% in ocular lesions, degree of ocular lesions is not parallel with that of renal disease. The morbidity rate of hematuria and sensorineural deafness is 77.7% and 50.0% respectively and the severity degree of deafness is parallel with renal lesion. We have detected 10 exons of COL4A5 of the family, no gene mutations were found .Increase of micro-proteinuria value was found in all AS cases in the family. Conclusions The morbidity rate of proteinuia and ocular abnormalities is high in the AS family. Micro-proteinuria detection may be useful hi the early diagnosis of AS , fixed local atrophy of the iris may be one of the characteristics of ocular lesions in AS. It need to be noticed specially that AS patients may have only proteinuria without hematuria in the stage of renal failure. Up to date ,the hot -point- mutations on AS have not been found in any pathogenetic gene,it often need a lot of work to find the pathogenetic gene of AS.