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 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 کاملMaking a dent with corticosteroid injections for de Quervain's tenosynovitis.
To cite: Khoo A, Grattan CE. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015214225 DESCRIPTION A 71-year-old patient presented with an abnormal patch of skin on the radial aspect of her right wrist (figures 1 and 2). Eighteen months previously, she had undergone an intra-tendon sheath steroid injection (0.25 mL triamcinolone 40 mg/mL) at the site, for de Quer...
متن کاملHydrochlorothiazide-induced tubulointerstitial nephritis in a patient with Dent disease
1. Straus SE, Ostrove JM, Inchauspe G et al. NIH conference. Varicellazoster virus infections. Biology, natural history, treatment, and prevention. Ann Intern Med 1988; 108: 221–237 2. Schmader K. Herpes zoster in older adults. Clin Infect Dis 2001; 32: 1481–1486 3. Buchbinder SP, Katz MH, Hessol NA et al. Herpes zoster and human immunodeficiency virus infection. J Infect Dis 1992; 166: 1153–11...
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ژورنال
عنوان ژورنال: Function
سال: 2020
ISSN: 2633-8823
DOI: 10.1093/function/zqaa017