Search

More than 20 years have passed since the identification of SLC3A1 and SLC7A9 as causative genes for cystinuria. However, cystinuria patients exhibit significant variability in the age of lithiasis onset, recurrence, and response to treatment, suggesting the presence of modulatory factors influencing cystinuria severity. In 2016, a second renal cystine transporter, AGT1, encoded by the SLC7A13 gene, was discovered. Although it was discarded as a causative gene for cystinuria, its possible effect as a modulatory gene remains unexplored. Thus, we analyzed its function in mouse models of cystinuria, screened the SLC7A13 gene in 34 patients with different lithiasic phenotypes, and functionally characterized the identified variants. Mice results showed that AGT1/rBAT may have a protective role against cystine lithiasis. In addition, among the four missense variants detected in patients, two exhibited a 25% impairment in AGT1/rBAT transport. However, no correlation between SLC7A13 genotypes and lithiasis phenotypes was observed in patients, probably because these variants were found in heterozygous states. In conclusion, our results, consistent with a previous study, suggest that AGT1/rBAT does not have a relevant effect on cystinuria patients, although an impact in patients carrying homozygous pathogenic variants cannot be discarded.

Objective: To perform a chemical analysis of all the available waters in Spain with the idea of offering consume recommendations to lithiasic patients., Material and Methods: Information research of the chemical composition of Spanish tap and bottled water in publications, supermarkets and Internet. A descriptive study, and a correlation study between water components by means of Pearson test were performed., Results: Information about composition from tap water of most of the main Spanish cities and 85 bottled water brands was found. A significant correlation between calcium and magnesium concentration (p = 0.0001) and high correlation between bicarbonate and sodium concentration (p = 0.0001, Pearson coefficient 0.958) was found. It is also offered water classifications according to calcium, bicarbonate, sodium and magnesium concentrations., Conclusion: A guideline about water election for lithiasic patients is offered according to their geographical origin and dietetic preferences, mainly lactic consume.

In recent years diagnosis and treatment of acute renal colic have changed thanks to the introduction of new radiological procedures that allow with high reliability to establish obstructive cause and a better treatment. In the other hand, there are multiple clinical studies that show the most effective treatments for acute crisis. The aim of this revision is to update the diagnostic and therapeutic aspects of renal colic which were modified recently, and allowed to break some classic concepts without scientific evidence.

Objectives: To know the factors associated to a successful result in the treatment of kidney transplant lithiasis by extracorporeal shockwave lithotripsy (ESWL)., Methods: From 850 kidney transplants performed at our center, we analyze 15 patients who developed urinary stones. Successful result by ESWL was the dependent variable, and size, location, and multiplicity of the stones were independent variables. Associations between variables were studied by the chi-square test (categorical variables) and the U-Mann Whitney test (continuous variables)., Results: Incidence was 1.76%. ESWL effectiveness was 87%; it was greater in solitary stones than in multiple stones (p = 0.001). No significant differences were found for stone size, although largest stones had a high risk for insertion of a nephrostomy tube (p = 0.013). Finally, ESWL was more effective for stones located at the ureteral anastomosis, although this difference was found not significant., Conclusions: The treatment of kidney transplant lithiasis by ESWL has an effectiveness of 87%. The best result was found for solitary stones located at the ureteral anastomosis.

A 45 year old man with a 2 year forgotten left double-pigtail ureteric stent was referred to our hospital. Because of distal calcifications, the stent could not be removed by means of a cystoscopy. So, extracorporeal wave lithotripsies were performed and then the stent were easily removed in two fragments by cystoscopy and ureteroscopy.

Objectives: The aim is to evaluate the effectiveness of AM3 (Inmunoferon) in the treatment of the recurrent cystitis in women in order to know the rate of good results, previously to design a clinical trial., Material and Methods: Twenty-four women who had been diagnosed of two cystitis episodes in the previous 6 months without cure by antibiotic treatment were admitted to the study. Standard antibiotic treatment and 3 daily grammes of AM3 was given for 9 months. Infection and irritative symptoms during micturition rate were evaluated at the inclusion date and afterwards, at the first, third, sixth and nineth month., Results: Nineteen patients finished the study. The infection rate decreased from 100% at the inclusion date to 26% in the first month and then it became stable about 50%. Irritative symptoms during micturition decreased from 46% at the inclusion date to a rate lower than 10% in the 4 controls running., Conclusion: AM3 reduced evident urinary infection in a 50% and irritative symptoms during micturition in a 90%. Control clinical trials are needed to confirm the AM3 effects on this pathology.

Objectives: To assess treatment options for calculi in horseshoe kidneys and the impact of extracorporeal shockwave lithotripsy (ESWL) on the management of renal stones., Material and Methods: From June 1971 to January 1998, 52 patients with horseshoe kidneys and calculi received treatment at our Urologic Stone Unit. There were 40 men (77%) and 12 women (23%). Average patient age was 41 years (range: 10-70 years). Clinical onset, treatment received and outcome were evaluated retrospectively. A successful outcome was defined as a patient without residual calculi or with fragments <0.4 cm in size., Results: Clinical onset was mainly low back pain in 37 patients (71%). Eighty-nine stones were treated, i.e. an average of 1.7 treatments per patient. Before the ESWL era (May 1987), we performed two heminephrectomies, 16 pyelolithotomies, 12 pyelolithotomies combined with ureteropyeloplasty and one percutaneous nephrolithotomy. Since the advent of ESWL, seven pyelolithotomies and three pyelolithotomies combined with ureteropyloplasty have been done. ESWL was used to treat 48 calculi. In three cases the patient was placed in the prone position due to difficulties in stone focusing. In 37 cases (77%) patients were either rendered stone-free or had residual fragments <0.4 cm in size. Urinary diversion for obstruction was carried out in two cases (4%)., Conclusions: At present ESWL is the first-choice treatment for calculi in horseshoe kidneys. It involves no significant focusing difficulties and is associated with a low incidence of obstructive complications. Open surgery is indicated in cases of stone-related pyeloureteral stenosis and in the presence of calculi >2-2.5 cm in size.