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- Published: July 26, 2018
- By: Chris Larsen, MD
- Tags: Chronic kidney disease, FISH, Genetic kidney disease, Nephronophthisis, NPHP1
Nephronophthisis is an autosomal recessive tubulointerstitial nephropathy that is a leading genetic etiology of end-stage renal disease in children and young adults. Approximately 60% of patients with a known genetic etiology of nephronophthisis are due to homozygous deletion of the NPHP1 gene. The histopathologic lesions associated with nephronophthisis are shown in these photomicrographs. (A) A tubular floret profile with complicated tubular branching in at least 4 directions (PAS; original magnification ×400). (B) Macula densa-like lesions (arrows) are tubular profiles in which there is a transition to a grouping of cells with crowded, hyperchromatic nuclei and a high nuclear: cytoplasmic ratio...