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Currently filtering by tag: NPHP1

Nephronophthisis by Light Microscopy

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...

Nephronophthisis by ISH

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. Fluorescence In-Situ Hybridization is both sensitive and specific for the detection of NPHP1 deletion in renal biopsies suspected to represent nephronophthisis. (A) Cases without NPHP1 deletion show nuclear profiles (DAPI blue) with two probe signals for both the control centromeric probe CEP2 (FITC green) and NPHP1 (CY3 orange). An arrow indicates a nuclear profile with two signals of...