"Dent's disease" is often used to describe an entire group of familial disorders, including X-linked recessive nephrolithiasis with renal failure, X-linked recessive hypophosphataemic rickets, and both Japanese and idiopathic low molecular weight proteinuria.
Because it is an X-linked recessive disorder, only males are affected with the disease, whereas females are asymptomatic carriers. The males are prone to manifesting symptoms in early adulthood with symptoms of calculi, rickets or even with renal failure in more severe cases.
In humans, gene CLCN5 is located on chromosome Xp11.22 and has a 2238-bp coding sequence that consists of 11 exons that span 25 to 30 kb of genomic DNA and encode a 746 amino acid protein. CLCN5 belongs to the family of voltage-gated chloride channel genes (CLCN1-CLCN7, and CLCKa and CLCKb) that have approximately 12 transmembrane domains. These chloride channels have an important role in the control of membrane excitability, transepithelial transport, and possibly cell volume.
The mechanisms by which CLC-5 dysfunction results in hypercalciuria and the other features of Dent's disease remain to be elucidated. The identification of additional CLCN5 mutations may help in these studies, and we have pursued such studies in patients with Dent's disease.
Dent's disease often produces symptoms of:
Dent's disease may also be associated with:
In a very large study of patients with Dent's disease, 9 out of 15 men, and 1 out of 10 women suffered end-stage renal failure by the age of 47.
As of today, there is no agreed-upon treatment of Dent's disease and no therapy has been formally accepted. Most treatment measures are mostly supportive in nature and they include:
SEN. BOND VISITS LOCAL OFFICIALS IN DENT, IRON COUNTIES ON JUMP-STARTING CLEAN ENERGY INDUSTRY IN SOUTHEAST MISSOURI
Aug 14, 2010; CAPE GIRARDEAU, Mo., Aug. 13 -- The office of Sen. Christopher S. 'Kit' Bond, R-Mo., issued the following news release: U. S....
BOND VISITS LOCAL OFFICIALS IN DENT, IRON COUNTIES ON JUMP-STARTING CLEAN ENERGY INDUSTRY IN SOUTHEAST MISSOURI.
Aug 13, 2010; CAPE GIRARDEAU, Mo. -- The following information was released by Missouri Senator Kit Bond: U.S. Senator Kit Bond today visited...