Renal and ureteric stones: a clinical review Redfern, Vicky; Mortimore, Gerri
British journal of nursing (Mark Allen Publishing),
2022-May-12, Letnik:
31, Številka:
9
Journal Article
Recenzirano
This clinical review on renal and ureteric stones discusses how stones form, the incidence, risks, and complications associated with calculi. It reflects on the management and treatment options ...available, and highlights the important contribution by nurses and those working in advanced clinical practice roles in using their knowledge and rational clinical decision making to ensure timely recognition, prompt investigation, management and ongoing health promotion.
Adenine Phosphoribosyltransferase Deficiency Bollée, Guillaume; Harambat, Jérôme; Bensman, Albert ...
Clinical journal of the American Society of Nephrology,
09/2012, Letnik:
7, Številka:
9
Journal Article
Recenzirano
Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low ...solubility of DHA results in precipitation of this compound and the formation of urinary crystals and stones. The disease can present as recurrent urolithiasis or nephropathy secondary to crystal precipitation into renal parenchyma (DHA nephropathy). The diagnostic tools available-including stone analysis, crystalluria, and APRT activity measurement-make the diagnosis easy to confirm when APRT deficiency is suspected. However, the disease can present at any age, and the variability of symptoms can present a diagnostic challenge to many physicians. The early recognition and treatment of APRT deficiency are of crucial importance for preventing irreversible loss of renal function, which still occurs in a non-negligible proportion of cases. This review summarizes the genetic and metabolic mechanisms underlying stone formation and renal disease, along with the diagnosis and management of APRT deficiency.
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