Nephronophthisis:a clinicopathologic analysis with review of literature
Objective To explore the clinicopathological characteristics of nephronophthisis.Methods The clinical and pathological data of a case of nephronophthisis were summarized,and the relevant literatures were reviewed.Results The patient had elevated serum creatinine and no obvious clinical symptoms.Tests showed low specific gravity urine,urine protein and urine red blood cells negative,and anemia.B ultrasound showed enhanced renal parenchyma echo.Magnetic resonance showed microcysts on the right kidney.Renal biopsy showed renal tubulointerstitial nephropathy with renal tubulointerstitial cystic dilatation.Two mutations of NPHP4 gene were found whitch lead to nephronophthisis 4.Conclusion The patient is diagnosed as nephronophthisis 4,which is autosomal recessive inheritance.The clinical diagnosis of nephronophthisis is difficult,and the diagnosis depends on typical pathological changes or genetic diagnosis.Nephronophthisis pathology is mainly renal tubulointerstitial lesions,often showing triple signs:renal tubule basement membrane destruction,tubular atrophy and cystic dilatation,renal interstitial fibrosis.There are more than 20 known pathogenic genes of nephronophthisis,which can be found by molecular gene screening.
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