nephronophthisis-like nephropathy type 1

(redirected from NPHPL1)

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.  

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.