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:
“I cannot be much pleased without an appearance of truth; at least of possibility—I wish the history to be natural though the sentiments are refined; and the characters to be probable, though their behaviour is excelling.”
—Frances Burney (1752–1840)
“In the history of the human mind, these glowing and ruddy fables precede the noonday thoughts of men, as Aurora the sun’s rays. The matutine intellect of the poet, keeping in advance of the glare of philosophy, always dwells in this auroral atmosphere.”
—Henry David Thoreau (1817–1862)
“Culture, the acquainting ourselves with the best that has been known and said in the world, and thus with the history of the human spirit.”
—Matthew Arnold (1822–1888)