The genetic basis of X-linked nephrolithiasis: leaving no stone unturned.
نویسنده
چکیده
منابع مشابه
The genetics of nephrolithiasis.
Renal stone formation (nephrolithiasis) is a worldwide problem causing substantial morbidity and economic burden. The heritability of stone formation has long been recognized, and with the advent of the genomic era, we have the potential to define the underlying genetic defects. Renal stone formation is multifactorial, with environmental factors interacting with underlying genetic factors. Isol...
متن کاملA review of the heritability of idiopathic nephrolithiasis.
Familial aggregations of nephrolithiasis were already noted in the early 19th century and over the intervening years there has been gradual progression in classifying the familial forms of nephrolithiasis. To date, there are at least 10 different monogenic conditions where those affected have a predisposition to nephrolithiasis. However, all of these rare conditions probably account for less th...
متن کاملThe efficacy of performing shockwave lithotripsy before retrograde intrarenal surgery in the treatment of multiple or large (≥1.5 cm) nephrolithiasis: A propensity score matched analysis
PURPOSE To investigate the effect of performing shockwave lithotripsy (SWL) before retrograde intrarenal surgery (RIRS) on the treatment outcomes of patients with nephrolithiasis. MATERIALS AND METHODS The data of 189 patients with renal stones who underwent RIRS from July 2007 to July 2014 was reviewed retrospectively. Patients with stones larger than 1.5 cm were recommended to undergo SWL b...
متن کاملRecent advances in understanding the clinical and genetic heterogeneity of Dent's disease.
Dent’s disease 1 (OMIM 300009) is an X-linked proximal tubulopathy [1] first described in 1964 [2], with Fanconi syndrome, a consistent renal abnormality, and low-molecular-weight proteinuria (LMWP) being almost always present. Nephrocalcinosis and renal stone formation occur more frequently in Dent’s disease 1 than in other forms of Fanconi syndrome. Various features of Dent’s disease 1 predom...
متن کاملRenal injury, nephrolithiasis and Nigella sativa: A mini review
Objective: The incidence and prevalence of kidney stone is increasing worldwide. After the first recurrence the risk of subsequent relapses is higher and the time period between relapses is shortened. Urinary stones can be severely painful and make a huge economic burden. The stone disease may increase the vulnerability of patients to other diseases such as renal failure. Medicinal herbs are ri...
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عنوان ژورنال:
- The Journal of clinical investigation
دوره 91 6 شماره
صفحات -
تاریخ انتشار 1993