Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.
Karl X KnaupThomas HackenbeckBernt PoppJohanna StoeckertAndrea WenzelMaike Büttner-HeroldFrederick PfisterMarkus SchuelerDidem SevenAnnette M MayJan HalbritterHermann-Josef GröneAndré ReisBodo B BeckKerstin AmannArif B EkiciMichael S WiesenerPublished in: Journal of the American Society of Nephrology : JASN (2018)
Diagnosing ADTKD-MUC1 by molecular genetics is possible, but it is technically demanding and labor intensive. However, immunohistochemistry on kidney biopsy specimens is feasible for nongenetic diagnosis of ADTKD-MUC1 and therefore, a valid method to select families for further diagnostics. Our data are compatible with the hypothesis that specific molecular effects of MUC1-fs underlie the pathogenesis of this disease.