ABSTRACT
PURPOSE: To identify candidate genes related with urolithiasis, the vitamin D receptor (VDR) gene polymorphisms were searched. MATERIALS AND METHODS: Between July 2002 and June 2003, 212 healthy subjects, used as normal controls, and 155 patients with urolithiasis were examined. The control volunteers had no histories of urolithiasis, familial stone disease or osteoporosis. The patients underwent a stone metabolic study and stone analysis. 49 patients received a stone analysis, of which, 45 had calcium stones. Using a polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) analysis of peripheral blood, the association between the VDR gene BsaM I polymorphism and urolithiasis was evaluated. The polymorphism was divided into three groups: excisable (C/C), unexcisable (T/T) and heterozygote (C/T). RESULTS: For the VDR gene BsaM I polymorphism, there was no statistically difference between the control and the urolithiasis groups. The distribution of VDR genotypes in the 155 patients with urolithiasis was as follows: C/C, 139 (89.7%); C/T, 12 (7.7%) and T/T, 4 (2.6%), which was not significantly different from that in the 212 control subjects: C/C, 195 (92.0%); C/T, 14 (6.6%) and T/T, 3 (1.4%). The frequencies of VDR genotypes in the 45 patients with calcium stone were: C/T (13.3%) and T/T (6.7%), and that of the T allele 13.3%, which were significantly different from those of the controls: C/T (6.6%) and T/T (1.4%) and that of the T allele, 4.7% (p<0.05). CONCLUSIONS: VDR BsaM I polymorphism appears to be a good candidate for a genetic marker in calcium stone disease. The T allele especially may be in charge of the pathogenesis of calcium stones. Further analysis and case accumulation are required to identify the genetic marker of urolithiasis. (Korean J Urol 2004;45:1143-1147)
Subject(s)
Humans , Alleles , Calcium , Genetic Markers , Genotype , Heterozygote , Osteoporosis , Polymorphism, Restriction Fragment Length , Receptors, Calcitriol , Urolithiasis , Vitamin D , Vitamins , VolunteersABSTRACT
PURPOSE: To identify candidate genes related with urolithiasis, the vitamin D receptor (VDR) gene polymorphisms were searched. MATERIALS AND METHODS: Between July 2002 and June 2003, 212 healthy subjects, used as normal controls, and 155 patients with urolithiasis were examined. The control volunteers had no histories of urolithiasis, familial stone disease or osteoporosis. The patients underwent a stone metabolic study and stone analysis. 49 patients received a stone analysis, of which, 45 had calcium stones. Using a polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) analysis of peripheral blood, the association between the VDR gene BsaM I polymorphism and urolithiasis was evaluated. The polymorphism was divided into three groups: excisable (C/C), unexcisable (T/T) and heterozygote (C/T). RESULTS: For the VDR gene BsaM I polymorphism, there was no statistically difference between the control and the urolithiasis groups. The distribution of VDR genotypes in the 155 patients with urolithiasis was as follows: C/C, 139 (89.7%); C/T, 12 (7.7%) and T/T, 4 (2.6%), which was not significantly different from that in the 212 control subjects: C/C, 195 (92.0%); C/T, 14 (6.6%) and T/T, 3 (1.4%). The frequencies of VDR genotypes in the 45 patients with calcium stone were: C/T (13.3%) and T/T (6.7%), and that of the T allele 13.3%, which were significantly different from those of the controls: C/T (6.6%) and T/T (1.4%) and that of the T allele, 4.7% (p<0.05). CONCLUSIONS: VDR BsaM I polymorphism appears to be a good candidate for a genetic marker in calcium stone disease. The T allele especially may be in charge of the pathogenesis of calcium stones. Further analysis and case accumulation are required to identify the genetic marker of urolithiasis. (Korean J Urol 2004;45:1143-1147)
Subject(s)
Humans , Alleles , Calcium , Genetic Markers , Genotype , Heterozygote , Osteoporosis , Polymorphism, Restriction Fragment Length , Receptors, Calcitriol , Urolithiasis , Vitamin D , Vitamins , VolunteersABSTRACT
PURPOSE: A ureteropelvic junction (UPJ) obstruction is a congenital anomaly commonly afflicting the pediatric population. However, it is also more frequent than generally appreciated in the adult population. This study was performed to understand the specific characteristics of the clinical presentations, courses and surgical success rate for 30 adults, who required surgery for a UPJ obstruction. MATERIALS AND METHODS: The medical records of 30 adults (16men, 14women, 18 to 65years old, with a median age of 34years) with a urographically proven, clinically significant, UPJ obstruction, who underwent 30 pyeloplasties between 1993 and 1999 were retrospectively reviewed. All patients were followed up for at least 3 months. An excretory urogram and 99mTc-DTPA renal scan were performed for the majority of patients, pre-operatively and 3 months post-operatively. RESULTS: The majority of the patients presented with flank pain (83.3%). The diagnosis was frequently delayed with an average duration of symptoms of 22 months. In the excretory urography, 81.5% was predominantly involved in the extrarenal pelvis. Thirteen of the 30 patients had associated urinary abnormalities (6; renal calculi, 2; duplicating system, 2; previous pyelonephritis, 1; horseshoe kidney, 1; ureterovesical junction obstruction). The majority of patients underwent a dismembered pyeloplasty (60.0%). The major cause of the UPJ obstructions was an intrinsic stenosis (53.3%). The success rate depending on the radiological finding was 93.3%. CONCLUSIONS: The results suggest that a UPJ obstruction in adult has a low bilaterality, a low incidence of vesicoureteral reflux, a high association with a renal stone when compared to children. Although the diagnosis was delayed with an average duration of 22 months since the onset of symptoms, the overall surgical success rate depending on radiologic finding was similar to that for children. The extrarenal pelvis may be one of the influencing factors to a high surgical success rate.