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Diagnosis of Alport Syndrome

2012-10-31 16:00

Alport Syndrome is a genetic glomerular basement membrane disease which is typically characterized by blood in urine, progressive kidney function decline and sensorineural deafness. It is a kidney disorder caused by mutations of collagens on glomerular basement membrane. Early diagnosis of the disease is essential since the diasease progresses rapidly.

How is Alport syndrome diagnosed?

Currently, the diagnosis of Alport Syndrome is mainly made based on clinical manifestations, family history, collagen IV ɑ chain immunofluorescence study, renal biopsy, electron microscopy and genetic analysis:

Clinical manifestations: cinically, the disease is characterized by hematuria and progressive renal function, which is often accompanied by ear disease, eye lesions, etc. Family history: the family memberswill be examined to confirm if there is history of deafness, retinal disorders and abnormal urinalysis results.

Glomerular basement membrane IV collagen ɑ chain immunofluorescence examination. Various types of anti-IV collagen ɑ chain monoclonal antibodies will be examined in immunofluorescence to diagnose X-linked genetic Alport syndrome, gene carriers as well the genetic types.

Electron microscopy through renal biopsy. Typical glomerular basement membrane pathological changes will help to confirm the diagnosis. However, young male patients and some adult males may be manifested as diffuse thinning on glomerular basement membrane.

Genetic analysis. Genetic analysis is important in determining the genetic types and prenatal diagnosis for gene carriers, as well as for confirming the diagnosis for those uncertain cases just through clinical and pathological testing.

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