Parallel Meeting on Friday 5, September 2025, 16:30 - 17:05
16:30 - 16:33
S34-1 (OP)
Youquan ZHAO and Jun LI
Beijing friendship hospital, Captical medical university, Urology, Beijing, CHINA
PURPOSE
This study aims to investigate the association between the SLC25A5 gene and the development of urolithiasis in the population.
MATERIAL AND METHODS
The study employed a cohort design, with patients divided into two groups: urolithiasis group and healthy control group. Whole exome sequencing (WES) was used to obtain all exonic sequence information, including SLC25A5 gene. Several mutation function prediction tools were used to identify possible pathogenic mutation sites in SLC25A5. The study used the propensity score matching method to compare clinical data differences between patients carrying potential pathogenic sites of SLC25A5 without known pathogenic genes and healthy subjects not carrying SLC25A5 hotspot mutations and known gene mutations, to investigate changes in clinical characteristics.
RESULTS
A total of 319 patients were enrolled in the study, comprising of 211 patients with stone groups and 108 patients in the healthy control group. Single nucleotide polymorphisms (SNPs) and insertion/deletion (INDELs) mutations at specific sites on the X chromosome of the SLC25A5 gene were identified by WES. A total of four mutation sites specific to patients with stones were identified, all of which were SNPs. These were SLC25A5:uc004erh.4:exon2:c.G597T:p.K199、SLC25A5:uc004erh.4:exon3:c.G707C:p.R236P、SLC25A5:uc004erh.4:exon4:c.T845C:p.M282T and SLC25A5:uc004erh.4:exon4:c.G846A:p.M282I. Among the mutated sites, SLC25A5:uc004erh.4:exon3:c.G707C:p.R236P was identified as a highly probable pathogenic mutation site with a high frequency of 3.79%. Furthermore, we studied the clinical characteristics of children carrying these mutations and found their correlation with urinary metabolism, stone composition and clinical features.
CONCLUSIONS
The mutation site SLC25A5:uc004erh.4:exon3:c.G707C:p.R236P is a potential pathogenic mutation in the SLC25A5 gene. It may be a hotspot mutation in the Chinese population, but its specific mechanism requires further verification.
16:33 - 16:36
S34-2 (OP)
Busra ACUN 1, Ebru CANDA 2, Sibel TIRYAKI 3, Ali TEKIN 3 and İbrahim ULMAN 3
1) Ege univercity, Pediatric surgery, Izmir, TÜRKIYE - 2) Ege univercity, Pediatric metabolism, Izmir, TÜRKIYE - 3) Ege univercity, Pediatric urology, Izmir, TÜRKIYE
PURPOSE
Lysosomal storage diseases (LSDs) result from the accumulation of specific compounds in lysosomes, due to lysosomal hydrolase deficiencies. While renal dysfunction is known to occur in LSDs, their role in stone formation has not been clearly established. Metabolic abnormalities associated with these conditions are likely to predispose individuals to stone formation. Despite this, the prevalence of urolithiasis in this unique patient population remains underreported. This study aimed to evaluate the frequency of kidney stones in patients with LSDs.
MATERIAL AND METHODS
A retrospective review of patients with confirmed LSDs who were followed up at our institution was conducted. Clinical records, imaging results, and metabolic evaluations were analyzed to identify cases of urolithiasis. Data on age, gender, type of LSD, presence of stones, and treatment history were collected and assessed.
RESULTS
A total of 405 patients were followed with a diagnosis of LSDs. Kidney stones were identified in 11 (2.7%). Among these, six patients had Gaucher disease (9%), four had Fabry disease (10%), one had MPS-2 (5%), and one had MPS-4 (3%). Looking at the age of first detection, all patients had their first kidney stone diagnosed in adult age. The average age of patients diagnosed with kidney stones was found to be 32 years old. None of the patients with kidney stones required surgical treatment.
CONCLUSIONS
Our findings suggest that the prevalence of kidney stones in patients with LSDs seems to be slightly higher than in the general population. But it also shows that stone formation in LSDs predominantly occur later in life and remain insignificant, underscoring the importance of increased awareness among adult healthcare providers.
16:36 - 16:39
S34-3 (OP)
Larisa KOVACEVIC, Hong LU, Dushan KOVACEVIC, Zain AMER and Yegappan LAKSHMANAN
Children's Hospital of Michigan, Pediatric Urology, Detroit, USA
PURPOSE
We analyzed the relationship between intake of vitamins B, C and D and hypocitraturia in children with urolithiasis.
MATERIAL AND METHODS
We performed a single center, retrospective analysis in all children with renal and/or ureteral calculi seen in the past ten years. Based on two-day dietary records, the intake of vitamins B, C and D were calculated by using ESHA Research Food Processor computer program, and compared between children (1) with stone and hypocitraturia as single metabolic abnormality, and (2) with stone and either hypercalciuria, renal hyperoxaluria alone or in combination or no metabolic abnormality. Independent t-tests were used for statistical analysis in between groups.
RESULTS
Dietary diaries were completed by 91 children with urolithiasis. Results of dietary analysis are expressed as ratios of patient measured value versus recommended dietary intake for age, and are presented in the Table. Children with hypocitraturia had a significantly lower intake of vitamin B12 and nearly significant lower intake of vitamin B2 compared to children with no hypocitraturia. Urinary citrate was positively correlated with vitamin B2 intake (r =0.234, p=0.025).
|
With Hypocitraturia (N= 24, 12 females) |
No Hypocitraturia (N= 67, 45 females) |
P-value | |
| Age (years) | 14.6 ± 2.84 | 12.6 ± 3.5 | 0.012 |
| Vitamin C* | 0.78 ± 0.67 | 1.34 ± 1.45 | 0.076 |
| Vitamin D** | 0.18 ± 0.14 | 0.21 ± 0.2 | 0.53 |
| Vitamin B2* | 1.19 ± 0.74 | 1.52 ± 0.84 | 0.096 |
| Vitamin B12** | 1.11 ± 0.83 | 1.78 ± 1.51 | 0.044 |
Results are presented as mean ± SD; * mg; **mcg
CONCLUSIONS
Children with urolithiasis have a low dietary intake of vitamin D irrespective of their metabolic cause. Hypocitraturia is associated with low consumption of B2 and B12 vitamins. Supplementation of these vitamins may be helpful in children with hypocitraturic stones. This intervention may have a prophylactic and therapeutic role in pediatric renal stones.
16:39 - 16:42
S34-4 (OP)
Sadaf ABA UMER, Sajid SULTAN, Bashir AHMED and Adeeb Ul Hassan RIZVI
SINDH INSTITUTE OF UROLOGY AND TRANSPLANTATION (SIUT), PHILIP G.RANSLEY DEPARTMENT OF PAEDIATRIC UROLOGY, Karachi, PAKISTAN
PURPOSE
The renal stone disease leads to pyonephrosis and non-functioning kidneys and so do the renal tuberculosis.The study aims to evaluate the aetiology of non-function kidneys in biopsy-proven renal tuberculosis,presenting features,operative findings and outcome.
MATERIAL AND METHODS
Retrospective review of the medical records of the children who underwent nephrectomy for non-functioning kidneys between 2003-2022 and have renal tuberculosis in the histopathology.For analysis,they are divided into two groups:Group-I with stone-disease and Group-II no-stone-disease.Data reviewed for presenting symptoms,lab parameters, operative findings and outcome.Data was analyzed in SPSS-v.20.p-value<0.05 was considered significant.
RESULTS
92 children had renal-tuberculosis in histopathology of non-functioning kidney,80% had stone disease and 20% had non-stone disaease including VUR or PUJO with pyonephrosis or small non-functioning kidney.
|
|
Group-I Stone-disease(n=74) |
Group-II No-stone-disease(n=18) |
p-value |
|
Age(years) |
9.39+/-3.19 |
11.2+/-3.8 |
0.03 |
|
Weight(kg) |
21.7+/-7.2 |
24.4+/-7.6 |
0.20 |
|
M:F |
50:24 |
8:10 |
0.06 |
|
Presenting symptoms Flank Pain |
65(87.8%) |
15(83.3%) |
0.69 |
|
LUTs |
13(17.6%) |
12(66.7%) |
0.0001 |
|
Cutaneous Sinus formation |
19(25.7%) |
1(5.6%) |
0.10 |
|
Lab Parameters Hb(gm%) |
10+/-2.0 |
9.8+/-2.19 |
0.61 |
|
ESR |
62.9+/-37.8 |
71.2+/-41.9 |
0.55 |
|
Creatinine |
1.0+/-1.5 |
1.15+/-1.82 |
0.84 |
|
Sterile pyuria |
60(81%) |
11(61%) |
0.22 |
|
Operative findings Pyonephrosis |
51(68.9%) |
8(44.4%) |
0.06 |
|
Psoas abscess |
19(26.5%) |
2(11.1%) |
0.22 |
|
Colo-renal fistula |
4((5.4%) |
1(5.6%) |
1.0 |
|
Postoperative-complications Wound infection |
5(16.7%) |
1(14.3%) |
0.32 |
|
Collection in renal bed |
4(13.3%) |
0 |
|
|
Sinus formation |
1(3.3%) |
0 |
|
CONCLUSIONS
In our renal tuberculosis population,majority is with renal stone disease.LUTs were more common in non-stone-disease group whereas cutaneous sinus were more common in stone-disease group.One needs to consider tuberculosis in the differential diagnosis of patient who presents with pyonephrosis with renal stone disease especially in Tuberculosis endemic and stone endemic countries.Still it needs to understand more about renal tuberculosis and renal stone, Is it a coincidence or a co-relation?
16:52 - 16:55
S34-5 (OP)
Cassie HULME, Rajiv KARANI, Paul CAMPBELL, Joseph RANDALL, Mickey DAUGHERTY, Brian VANDERBRINK, Eugene MINEVICH, Pramod REDDY, William DEFOOR and Andrew STRINE
Cincinnati Children's Hospital Medical Center, Pediatric Urology, Cincinnati, USA
PURPOSE
The optimal duration of ureteral stent dwell time following primary ureteroscopy in pediatric patients is unknown. We sought to explore the association of ureteral stent dwell time to office calls, emergency department visits, readmissions and complications in pediatric patients within 30 days following primary ureteroscopy.
MATERIAL AND METHODS
We performed a retrospective cohort study of patients less than 18 years who underwent primary ureteroscopy and ureteral stent placement for the treatment of urolithiasis from 2011 to 2023. Ureteral stent dwell time was defined as the time from primary ureteroscopy to the date of stent removal. In the 30 days following ureteral stent removal, the number of office calls, emergency department visits, readmissions, and complications were assessed. Multivariate analysis was performed to control for age, sex, stone size, and stone location.
RESULTS
A total of 84 patients undergoing primary ureteroscopy and ureteral stent placement were included. The median age was 16.1 years (IQR 13.8 – 17 years), and the median ureteral stent dwell time was 4 days (IQR 3 – 6 days). Patients who called the office within 30 days of stent removal (n=35) trended toward a shorter stent dwell time than those who did not call the office (n=53) (4.5 days vs 6.5 days, p=0.057). On multivariate analysis, stent dwell time of less than 5 days was significantly associated with a telephone call within 30 days of stent removal (OR 2.96, 95% CI 1.15-8.17). Patients without an extraction string had significantly longer stent dwell times (13 days vs 4 days, p<0.001).
CONCLUSIONS
Ureteral stent dwell time of less than 5 days was significantly associated with a telephone call within 30 days of stent removal. Use of a stent extraction string did not impact the rate of telephone calls, emergency department visits, readmissions, or complications.
16:55 - 17:00
S34-6 (VP)
Otilia Eva BLAIN 1, Javier RUIZ 1, Felicitas LOPEZ IMIZCOZ 1, Nicolas ROSIERE 1, Juan Pablo CORBETTA 2, Danel ALBERTI 1, Leandro ASEN 1, Carol BUREK 1, Yesica GOMEZ 1, Ignacio ARENAS 1, Cristian SAGER 1 and Santiago WELLER 1
1) Hospital de Pediatría S.A.M.I.C. "Prof. Dr. Juan P. Garrahan", Urology, Ciudad Autónoma De Buenos Aires, ARGENTINA - 2) Hospital de Pediatría S.A.M.I.C. "Prof. Dr. Juan P. Garrahan", Ciudad Autónoma De Buenos Aires, ARGENTINA
PURPOSE
The incidence of ectopic kidney is 1 in 2200 to 3000, with the pelvic region being the most common location. Affected patients often present abnormal rotation and hydronephrosis, predisposing them to nephrolithiasis. Surgical treatment is usually challenging due to the abnormal location and anatomy, which limit the use of standard treatment options.
This video describes a step-by-step minimally invasive procedure for the management of nephrolithiasis in a paediatric ectopic pelvic kidney using laparoscopy-assisted mini-ECIRS.
MATERIAL AND METHODS
A 2-year-old boy with recurrent urinary tract infections presented with nephrolithiasis. CT confirmed an ectopic right pelvic kidney, with a 19 x 5 mm stone in the renal pelvis and a 7 x 2 mm stone in the proximal ureter. Due to the patient's age, pre-stenting was performed. Retrograde ureteropyelography revealed a high ureteral insertion and an abnormal renal axis. Three weeks later, flexible ureteroscopy showed an abnormal calyceal arrangement, with the larger stone in the posterior-inferior calyx near the ureteropelvic junction, which could not be fragmented or mobilized.
Under laparoscopic and endoscopic vision, with fluoroscopic guidance, an anteroinferior calyx puncture was performed. A transparietal stay suture, including the posterior peritoneum, allowed progressive dilation and with a 12Fr nephroscope, dusting was performed. The operative time was 180 minutes. The patient was discharged after 4 days without complications.
RESULTS
CONCLUSIONS
This video describes the first laparoscopy-assisted mini-ECIRS performed in a paediatric ectopic pelvic kidney. This approach provides an option for patients with anomalies related to abnormal kidney ascent, where conventional retrograde intrarenal surgery is technically unfeasible.