nephronophthisis-like nephropathy type 1

A disorder (OMIM:613159) with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure.
Clinical findings
Chronic renal failure, anaemia, polyuria, polydipsia, isosthenuria and growth retardation; accompanied by extrarenal symptoms, including hypertension, essential tremor, sensorineural hearing loss and gout. Severely affected individuals can have mitochondrial changes with isolated complex-I deficiency activity in muscle, seizures, mental retardation and hypertrophic dilated cardiomyopathy.
Pathology
Modifications of tubules with thickened basement membrane, interstitial fibrosis and, if advanced, medullary cysts.
Molecular pathology
Caused by defects of XPNPEP3, which encodes a X-pro-aminopeptidase.

单词	nephronophthisis-like nephropathy type 1
释义	nephronophthisis-like nephropathy type 1 nephronophthisis-like nephropathy type 1 A disorder (OMIM:613159) with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Clinical findings Chronic renal failure, anaemia, polyuria, polydipsia, isosthenuria and growth retardation; accompanied by extrarenal symptoms, including hypertension, essential tremor, sensorineural hearing loss and gout. Severely affected individuals can have mitochondrial changes with isolated complex-I deficiency activity in muscle, seizures, mental retardation and hypertrophic dilated cardiomyopathy. Pathology Modifications of tubules with thickened basement membrane, interstitial fibrosis and, if advanced, medullary cysts. Molecular pathology Caused by defects of XPNPEP3, which encodes a X-pro-aminopeptidase.
随便看	iaaam iaaap iaaas iaaawhq iaab iaabc iaabd iaabo iaac iaaca iaacc iaacd iaace iaaci iaacm iaacn iaaco iaacp iaacs iaact iaacu iaad iaadfs iaadp iaads