Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the ident...Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the identification of monogenic causes using high-throughput sequencing technologies have shown that urolithiasis has a strong heritable component.Methods: This review describes monogenic factors implicated in a genetic predisposition to urolithiasis. Peer-reviewed journals were evaluated by a PubMed search until July 2023 to summarize disorders associated with monogenic traits, and discuss clinical implications of identification of patients genetically susceptible to urolithiasis formation.Results: Given that more than 80% of urolithiases cases are associated with calcium accumulation, studies have focused mainly on monogenetic contributors to hypercalciuric urolithiases, leading to the identification of receptors, channels, and transporters involved in the regulation of calcium renal tubular reabsorption. Nevertheless, available candidate genes and linkage methods have a low resolution for evaluation of the effects of genetic components versus those of environmental, dietary, and hormonal factors, and genotypes remain undetermined in the majority of urolithiasis formers.Conclusion: The pathophysiology underlying urolithiasis formation is complex and multifactorial, but evidence strongly suggests the existence of numerous monogenic causes of urolithiasis in humans.展开更多
Malignant ureteral obstruction can result in renal dysfunction or urosepsis and can limit the physician’s ability to treat the underlying cancer.There are multiple methods to deal with ureteral obstruction including ...Malignant ureteral obstruction can result in renal dysfunction or urosepsis and can limit the physician’s ability to treat the underlying cancer.There are multiple methods to deal with ureteral obstruction including regular polymeric double J stents(DJS),tandem DJS,nephrostomy tubes,and then more specialized products such as solid metal stents(e.g.,Resonance Stent,Cook Medical)and polyurethane stents reinforced with nickel-titanium(e.g.,UVENTA stents,TaeWoong Medical).In patients who require long-term stenting,a nephrostomy tube could be transformed subcutaneously into an extra-anatomic stent that is then inserted into the bladder subcutaneously.We outline the most recent developments published since 2012 and report on identifiable risk factors that predict for failure of urinary drainage.These failures are typically a sign of cancer progression and the natural history of the disease rather than the individual type of drainage device.Factors that were identified to predict drainage failure included low serum albumin,bilateral hydronephrosis,elevated C-reactive protein,and the presence of pleural effusion.Head-to-head studies show that metal stents are superior to polymeric DJS in terms of maintaining patency.Discussions with the patient should take into consideration the frequency that exchanges will be needed,the need for externalized hardware(with nephrostomy tubes),or severe urinary symptoms in the case of internal DJS.This review will highlight the current state of diversions in the setting of malignant ureteral obstruction.展开更多
文摘Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the identification of monogenic causes using high-throughput sequencing technologies have shown that urolithiasis has a strong heritable component.Methods: This review describes monogenic factors implicated in a genetic predisposition to urolithiasis. Peer-reviewed journals were evaluated by a PubMed search until July 2023 to summarize disorders associated with monogenic traits, and discuss clinical implications of identification of patients genetically susceptible to urolithiasis formation.Results: Given that more than 80% of urolithiases cases are associated with calcium accumulation, studies have focused mainly on monogenetic contributors to hypercalciuric urolithiases, leading to the identification of receptors, channels, and transporters involved in the regulation of calcium renal tubular reabsorption. Nevertheless, available candidate genes and linkage methods have a low resolution for evaluation of the effects of genetic components versus those of environmental, dietary, and hormonal factors, and genotypes remain undetermined in the majority of urolithiasis formers.Conclusion: The pathophysiology underlying urolithiasis formation is complex and multifactorial, but evidence strongly suggests the existence of numerous monogenic causes of urolithiasis in humans.
文摘Malignant ureteral obstruction can result in renal dysfunction or urosepsis and can limit the physician’s ability to treat the underlying cancer.There are multiple methods to deal with ureteral obstruction including regular polymeric double J stents(DJS),tandem DJS,nephrostomy tubes,and then more specialized products such as solid metal stents(e.g.,Resonance Stent,Cook Medical)and polyurethane stents reinforced with nickel-titanium(e.g.,UVENTA stents,TaeWoong Medical).In patients who require long-term stenting,a nephrostomy tube could be transformed subcutaneously into an extra-anatomic stent that is then inserted into the bladder subcutaneously.We outline the most recent developments published since 2012 and report on identifiable risk factors that predict for failure of urinary drainage.These failures are typically a sign of cancer progression and the natural history of the disease rather than the individual type of drainage device.Factors that were identified to predict drainage failure included low serum albumin,bilateral hydronephrosis,elevated C-reactive protein,and the presence of pleural effusion.Head-to-head studies show that metal stents are superior to polymeric DJS in terms of maintaining patency.Discussions with the patient should take into consideration the frequency that exchanges will be needed,the need for externalized hardware(with nephrostomy tubes),or severe urinary symptoms in the case of internal DJS.This review will highlight the current state of diversions in the setting of malignant ureteral obstruction.
