منابع مشابه
2 Dent ’ s Disease
Dent’s disease (MIM #300009) is a rare X-linked disorder characterized by various degrees of proximal tubular (PT) dysfunction, nephrocalcinosis and nephrolithiasis. The exact prevalence is unknown. The disease was first reported by Dent and Friedman, who described two males with vitamin D resistant rickets, hypercalciuria and low molecular weight proteinuria (LMWP) (Dent & Friedman, 1964). Bas...
متن کاملA boy with Dent-2 disease.
Dent-2 disease is an X-linked renal tubulopathy associated with mutations in OCRL gene. It is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis/nephrocalcinosis and progressive renal failure. Patients may have some extra-renal symptoms of Lowe syndrome, such as peripheral cataracts, mental impairment, stunted growth or elevation of creatine kinase/lactate dehydr...
متن کاملMouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.
The Lowe oculocerebrorenal syndrome is an X-linked disorder characterized by congenital cataracts, cognitive disability, and proximal tubular dysfunction. Both this syndrome and Dent Disease 2 result from loss-of-function mutations in the OCRL gene, which encodes a type II phosphatidylinositol bisphosphate 5-phosphatase. Ocrl-deficient mice are unaffected, however, which we believe reflects a d...
متن کاملDent Associates White Papers 11 - 01 David Dent , Dent Associates Ltd Brian Pettit , Chilworth Consultants Ltd
TRLs have the benefit of providing a common understanding of the status of a technology in its development pathway, a means of assessing and managing risk, and decision making concerning funding and implementation of technology. As with any management tool, there are certain limitations and disadvantages to its use. These include the creation of extra reporting, paperwork, reviews, lengthy adop...
متن کاملHypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis.
BACKGROUND AND OBJECTIVES Dent disease is a hereditary form of progressive renal failure characterized by hypercalciuria and proximal tubular dysfunction. The clinical presentation is often insidious with the majority of patients remaining asymptomatic throughout childhood. Despite the seemingly mild, early course, more than 20% of 32 asymptomatic patients in one study had biopsy evidence of fo...
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ژورنال
عنوان ژورنال: Srpski arhiv za celokupno lekarstvo
سال: 2008
ISSN: 0370-8179,2406-0895
DOI: 10.2298/sarh08s4312p