• Dr. Vincenzo L'Imperio

FISH for the diagnosis of NPHP1 deletion–related nephronophthisis on renal biopsy


Nephronophthisis is an autosomal recessive tubulointerstitial nephropathy responsible of end-stage renal disease in children and young adults. Around 60% of cases are due to homozygous deletion of the NPHP1 gene

Take home messages

  • Nine (20%) out of 45 renal biopsies from young patients with CKD of undetermined etiology showed homozygous NPHP1 deletion with FISH

  • In cases with adequate tissue PCR demonstrated 100% agreement

  • Histological features considered "classic" of these forms (interstitial fibrosis, inflammation, cystic dilation of tubules and tubular basement membrane duplication) do not correlate with the presence of mutation

  • Six morphological features (tubular florets - A, macula densa–like changes - B and diverticula - C, interstitial Tamm-Horsfall aggregates - D, periglomerular fibrosis - E and the absence of arteriosclerosis - F) correlated with the presence of mutation


#renalpath #nephropath #nephronophthisis #NPHP1 #genetics #FISH #PCR #renalbiopsy

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Sito della Scuola di Anatomia Patologica

dell'Università degli Studi di Milano-Bicocca

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