Which of the following genes is not associated with Autosomal Dominant Tubulointerstitial Kidney Disease?
MUC1
HNF1b
UMOD
NPHS2
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
Systemic Disorders affecting Glomerulus