Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed...

Hereditary tubulointerstitial kidney diseases typically manifest as slowly progressive chronic kidney disease. Rapidly progressive kidney failure with non-cystic nephromegaly is an exceptionally rare presentation posing significant diagnostic challenges. We describe a 64-year-old man presenting with rapidly progressive kidney failure and bilateral non-cystic kidney enlargement. Initial imaging, including computed tomography (CT) and magnetic resonance imaging (MRI), revealed no cysts. Kidney biopsy showed tubular ectasia and basement membrane abnormalities consistent with tubulointerstitial disease, and genetic analysis identified a heterozygous NPHP1 variant. Although liver biopsy supported a diagnosis of nephronophthisis-related ciliopathy, the aggressive clinical course and absence of cysts were atypical. Notably, 5 years after initiating haemodialysis, follow-up MRI revealed numerous medullary cysts that were previously undetectable. Crucially, these cysts were clearly visible on MRI but remained indistinguishable on concurrent CT. This case illustrates a deceptive 'pre-cystic' phase characterised by rapid progression and inflammatory nephromegaly. It underscores that initial cyst absence does not exclude the diagnosis and establishes the critical superiority of MRI over CT for detecting delayed medullary cysts to determine the aetiology in end-stage kidneys.