History
Dent's disease was first described by Charles Enrique Dent and M. Friedman in 1964, when they reported two unrelated British boys with rickets associated with renal tubular damage characterized by hypercalciuria, hyperphosphaturia, proteinuria, and aminoaciduria. This set of symptoms was not given a name until 30 years later, when the nephrologist Oliver Wrong more fully described the disease. Wrong had studied with Dent and chose to name the disease after his mentor. Dent's disease is a genetic disorder caused by the genetic mutations in the renal chloride channel CLCN5, which encodes a kidney-specific, voltage-gated chloride channel and a 746-amino-acid protein (CLC-5), with 12 to 13 transmembrane domains; it manifests itself through low-molecular-weight proteinuria, hypercalciuria, aminoaciduria and hypophosphataemia. Because of its rather rare occurrence, Dent's disease is often diagnosed as idiopathic hypercalciuria, i.e., excess calcium in urine with undetermined causes.
Read more about this topic: Dent's Disease
Famous quotes containing the word history:
“Social history might be defined negatively as the history of a people with the politics left out.”
—G.M. (George Macaulay)
“The history of the world is none other than the progress of the consciousness of freedom.”
—Georg Wilhelm Friedrich Hegel (1770–1831)
“The history of reform is always identical; it is the comparison of the idea with the fact. Our modes of living are not agreeable to our imagination. We suspect they are unworthy. We arraign our daily employments.”
—Ralph Waldo Emerson (1803–1882)