Although mutations in the gene HNF-1beta (or TCF2) were originally discovered in patients with mature-onset diabetes of the young (MODY), patients with these mutations more commonly present with a variable renal phenotype. Interestingly, a study by Egdhill et….
I saw a patient in Transplant Clinic today with a strong family history of chronic kidney disease requiring dialysis and periodic fevers. She was coming to the Transplant Clinic because she wants to be considered for a potential…
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by the autosomal dominant transmission of mutations in one of two genes identified thus far: PKD1 (which accounts for about 85% of all cases and encodes for the polycystin-1 protein)…
There are a variety of interesting genetic diseases that can cause hereditary Magnesium wasting. Renal magnesium handling is a little different than other ions in that the primary site of reabsorption is not the proximal convoluted tubule. Rather,…
For many years, the existence of “phosphatonins”–substances secreted by certain tumors which result in profound renal phosphorus wasting and resultant osteomalacia–has been postulated. Evidence has recently been accumulating that fibroblast growth factor 23 (FGF-23) is the phosphatonin we…
Autosomal dominant polycystic kidney disease (ADPKD) acconts for about 10% of patients on dialysis in the U.S. and occurs in 1:400 – 1:2000 live births. As the disease is inherited in an autosomal dominant fashion, the question of…
