Welcome to the magic world of nephropathology, glomeruli, podocites, interstituim and so on in kidney pathology. Mutations in the clcn5 gene cause dent disease type 1 60% of cases, and mutations in the ocrl gene cause dent disease type 2 15% of cases. Dent disease genetic and rare diseases information. Comparison of the oral microbiomes of canines and their. Dent disease genetic and rare diseases information center. The study was approved by the konkuk university institutional animal care and use committee ku14017. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for dent disease. Condicion rara, ligada al cromosoma x, afecta selectivamente al rinon con. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. While symptoms and severity vary, they usually begin in childhood and worsen over time. The rksc investigators collaboration has published a new article that also includes updated diagnostic algorithms for the four rare kidney stone diseases in the rksc, including a dent algorithm. Edvardsson v, goldfarb ds, lieske jc, bearalasic l, anglani. Sep 20, 2016 dent disease is a chronic kidney disease that primarily affects males.
Hipomagnesemia con hipercalciuria y nefrocalcinosis. Documentacion consentimeintoinformadogenetica2020renaltubees. Gema ariceta iraola y mireia aguirre menica nefrologia. In the remaining 25% of cases, the genetic cause is unknown.