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Diagnose This (September 19, 2022)

Clarissa Cassol, MD renal pathologist at arkana laboratories
By Clarissa Cassol, MD

Sep 20, 2022

NPHP1-related nephronophthisis

In a 26-year-old obese Black female with no significant PMH and elevated creatinine, what is your top diagnosis?




The biopsy shows diffusely dilated tubules, with multidirectional branching, small diverticuli, and focal macula densa-like changes (arrows). Glomeruli were enlarged (glomerulomegaly) but otherwise unremarkable, immunofluorescence was negative and electron microscopy showed no ultrastructural abnormalities. Given the morphology, NPHP1 FISH was performed to assess for homozygous deletion of NPHP1, which was detected, indicating that this patient has NPHP1-related nephronophthisis.




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