Dent’s disease

Mis-localisation of annexin 2 has recently been implicated in the pathogenesis of Dent s disease. This term is now used collectively to describe what was previously four conditions that affect kidney function X-linked recessive nephrolithiasis with renal failure, X-linked recessive hypophosphatemic rickets, idiopathic low molecular weight proteinuria with hypercalciuria and nephrocalcinosis and Dent s disease. Patients with this condition present with low molecular weight proteinuria and hypercalciuria. Renal stones, nephrocalcinosis and renal failure are common late-stage developments. The condition has been attributed to abnormal acidification within endosomes of the proximal tubular cells. It is very rare and is usually caused by mutations in the voltage-dependent Cl /H+ chloride antiporter CLCN5, but occasionally in the PI4,5P2 5-phosphatase, OCRL1 (oculocerebrorenal syndrome of Lowe protein 1). 

Thakker RV. Pathogenesis of Dent s disease and related syndromes of X-hnked nephrofithiasis. Kidney Int 2000 57 787-93. 

Dent s disease and other kidney stone diseases Osteopetrosis Bartter s syndrome Kidney disease Glomerulosclerosis, defective Mg reabsorption Mucolipidosis IV Malignant hyperthermia, central core... 

Devuyst O, Christie PT, Courtoy PJ, Beauwens R and Thakker RV (1999) Intrarenal and subcel-lular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent s disease. Hum Mol Biol 8 247—257. 

Dent s disease a familial renal tubular syndrome, characterized by low molecular weight proteinuria, hypercalciuria, nephrolithiasis, and eventual renal failure dermatitis inflammation of the skin dermographism over-sensihve reaction of the skin in which pressure or friction gives rise to a wheat so that a word traced is visible... 

Gunther W, Luchow A, Cluzeaud F, Vandewalle A, Jentsch TJ. ClC-5, the chloride channel mutated in Dent s disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc Natl Acad Sci USA 1998 95 8075-8080. 

Finally, there is a rare, but extremely severe form of idiopathic hypercalciuria leading to progressive NC and renal failure X-linked hypercalciuric nephropathy with tubular proteinuria, also called Dent s disease (Lloyd et al. 1996). 

Dimitrov M, Alattia JR, Lemmin T, Lehal R, Fligier A, Houacine J et al (2013) Alzheimer s disease mutations in APP but not y-sccrctasc modulators affect epsilon-cleavage-depen-dent AICD production. Nat Commun 4 2246... 

Tappia P.S., Dent M.R., Dhalla N.S. Oxidative stress and redox regulation of phospholipase D in myocardial disease. Free Radic. Biol. Med. 41 (2006) 349-361. 

Kaur S, White S, Bartold PM. Periodontal disease and rheumatoid arthritis a systematic review. / Dent Res. 2013 92(5) 399—408. 

Petti S, Scully C (2009) Polyphenols, oral health and disease a review. J Dent 41 413-423... 

Hunt RH, Cederberg C, Dent J, Halter F, Howden C, Marks IN, Rune S, Walt RP (1995) Optimizing acid suppression for treatment of acid-related diseases. Dig Dis Sci 40(2 Suppl) 24S-49S... 

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