Which of the following genes is not associated with Autosomal Dominant Tubulointerstitial Kidney Disease?
Correct Answer: NPHS2
Description: Autosomal recessive FSGS results from mutations in the NPHS2 gene, which maps to chromosome 1q25-q31 and encodes the protein product podocin. Autosomal dominant tubulointerstitial kidney disease (ADTKD): Previously known as medullary cystic kidney disease Variable presence of cysts, which often are not located in the medulla Now recognized to be due to following genetic mutations: MUC1 encodes mucin-1 (expressed in distal nephrons) UMOD encodes uromodulin (expressed in thick ascending limb of loop of Henle) REN encodes preprorenin (expressed by juxtaglomerular apparatus) HNF1b encodes hepatocyte nuclear factor 1b, a transcription factor that regulates multiple genes, including UMOD ADTKD is associated with non-specific clinical and pathologic findings and causes progressive renal failure in adult life The pathogenic mechanisms are unknown
Category:
Pathology
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