Leucocytoclastic Vasculitis Differential MPA — ESENeph MCQ

Correct answer: D — Autosomal dominant tubulointerstitial kidney disease due to UMOD variation

The best answer is “Autosomal dominant tubulointerstitial kidney disease due to UMOD variation”. ADTKD often has little or no proteinuria or haematuria, normal or small kidneys and no requirement for macroscopic cysts; UMOD-related disease commonly produces hyperuricaemia and gout. “Autosomal dominant polycystic kidney disease due to PKD1 variation” is less appropriate because the absence of enlarged cystic kidneys and the bland tubulointerstitial phenotype point elsewhere “Alport syndrome due to a type-IV collagen disorder” is less appropriate because haematuria and hearing or ocular features would be more characteristic “Autosomal recessive nephronophthisis due to a ciliopathy” is less appropriate because the inheritance pattern is dominant across generations “Thin basement membrane nephropathy due to COL4A3 variation” is less appropriate because persistent haematuria rather than gout and bland progressive tubulointerstitial CKD would be expected

Reference: GeneReviews: autosomal dominant tubulointerstitial kidney disease: https://www.ncbi.nlm.nih.gov/books/NBK1356/