Table 3

Genetic diseases affecting the renal tubule and collecting duct.11 20

DiseaseGeneGene productInheritancePart of nephron affectedPhenotype OMIM number
Bartter syndrome (Antenatal—type I)SLC12A1Sodium/potassium/chloride (NKCC2) co-transporterAutosomal recessiveThick ascending limb of loop of Henle601678
Bartter syndrome (Classical—type III)CLCNKBChloride channel KbAutosomal recessiveThick ascending limb of loop of Henle607364
Gitelman syndromeSLC12A3Thiazide-sensitive sodium chloride co-transporter (NCCT)Autosomal RecessiveDistal convoluted tubule263800
Liddle's syndromeSCNN1G, SCNN1BGain of function mutation in renal sodium channel (α-subunit or β-subunit, respectively)Autosomal DominantCollecting duct (cortical)177200
Nephrogenic diabetes insipidusAVPR2Vasopressin V2 receptorX-Linked (most commonly)Collecting duct304800
  • OMIM, Online Mendelian Inheritance in Man.