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High-energy phosphate metabolism during incremental calf exercise in patients with unilaterally symptomatic peripheral arterial disease measured by phosphor 31 magnetic resonance spectroscopy.

BACKGROUND: The treadmill exercise test is the most important examination of the functional ability of patients with intermittent claudication or leg pain during exercise, but it does not provide any metabolic information in the calf muscle. The purpose of this study was to investigate the high-energy metabolism in the calf muscle during incremental progressive plantar flexion exercise of a selected peripheral arterial disease (PAD) patient group. METHODS: Using a 1.5-T whole-body magnetic resonance scanner, 17 male patients with PAD who had 1 symptomatic and 1 asymptomatic leg and 9 healthy male controls underwent serial phosphor 31 (31P) magnetic resonance spectroscopy during incremental exercise at 2, 3, 4, and 5 W. Furthermore, magnetic resonance angiography was performed, and the ankle-brachial pressure index was determined in the patient group. The runoff resistance (ROR) was separately assessed in each patient's leg. RESULTS: The symptomatic legs exhibited significantly increased phosphocreatine (PCr) time constants during the first three workload increments (2-4 W) and the recovery phase compared with the asymptomatic legs and the normal controls. Only two symptomatic legs reached the last increment at 5 W. Compared with the normal controls, the asymptomatic legs showed significantly increased PCr time constants only at 5 W. In the patient group, we detected significant correlations between the PCr time constants and the ROR, as well as the ankle-brachial pressure index. Moreover, the symptomatic legs presented significantly lower PCr levels and pH values at the end of exercise compared with the asymptomatic and control legs. CONCLUSIONS: Our study shows that muscle function in PAD patients can be objectively quantified with the help of 31P magnetic resonance spectroscopy and correlates significantly with hemodynamic parameters such as ROR and ankle-brachial pressure index. Consequently, 31P magnetic resonance spectroscopy seems to be a useful method to monitor the muscle function of PAD patients for evaluation of established therapies or new therapeutic strategies during research trials.

Aged↗

Hemilaterally symptomatic bipartite patella associated with bone erosions arising from a gouty tophus: a case report.

Symptomatic bipartite patella in adults is rare. We have treated an unusual case of a bipartite patella in an adult, which became symptomatic in association with cystic degeneration localized to the patella and a gouty tophus. Although the patient had bilateral bipartite patellae, multiplanar reformation with computed tomography (CT-MPR) clearly demonstrated that the bipartite portion of the patella was malaligned at the junction of the accessory bone and patella in the symptomatic knee. Bone erosions were present both in the bipartite fragment and adjacent portion of the patella. After surgical excision of the bipartite fragment, the patient's symptoms have improved. This case illustrates that cyst formation associated with inflammatory arthritis may be a rare cause for a bipartite patella in an adult to become symptomatic.

Adult↗

Functional abnormalities in symptomatic concussed athletes: an fMRI study.

Our aim was to quantify with functional magnetic resonance imaging (fMRI) changes in brain activity in concussed athletes and compare the results with those of normal control subjects. Regional brain activations associated with a working memory task were obtained from a group of concussed athletes (15 symptomatic, 1 asymptomatic) and eight matched control subjects, using blood oxygen level dependent (BOLD) fMRI. The average percent signal change from baseline to working memory condition in each region of interest was computed. Symptomatic concussed athletes demonstrated task-related activations in some but not all the regions of interest, even when they performed as well as the control subjects. Furthermore, several concussed athletes had additional increases in activity outside the regions of interest, not seen in the control group. Quantitative analysis of BOLD signals within regions of interest revealed that, in general, concussed athletes had different BOLD responses compared to the control subjects. The task-related activation pattern of the one symptom-free athlete was comparable to that of the control group. We also repeated the study in one athlete whose symptoms had resolved. On the first study, when he was still symptomatic, less task-related activations were observed. On follow-up, once his symptoms had disappeared, the task-related activations became comparable to those of the control group. These results demonstrate the potential of fMRI, in conjunction with the working memory task, to identify an underlying pathology in symptomatic concussed individuals with normal structural imaging results.

Adult↗

Laparoscopic nephropexy using tension-free vaginal tape for symptomatic nephroptosis.

OBJECTIVES: Nephroptosis is a common incidental finding on routine excretory urography. It is characterized by descent of the kidney by more than 5 cm during orthostasis and is typically diagnosed in asthenic women. However, symptomatic nephroptosis is present in no more than 10% to 20% of cases. Currently, surgical correction of this benign disease is reserved for select cases in which well-documented nephroptosis causes persistent symptoms not amenable to conservative treatment. We report on laparoscopic nephropexy using tension-free vaginal tape (TVT) for symptomatic nephroptosis. TECHNICAL CONSIDERATIONS: From 1999 to 2003, symptomatic nephroptosis was treated by laparoscopic nephropexy using TVT in 10 women aged 22 to 41 years (median age 30.2). After laparoscopic mobilization of the kidney, the needle of the TVT is directed below the lower pole of the kidney and pushed through the abdominal wall. Next, the tape is guided just over the lateral margin of the kidney and pushed through the abdominal wall. The kidney is now trapped in the tape. The sling is tightened until the kidney is securely fixed to the dorsal abdominal wall. The retroperitoneum is closed, and the ports are removed without leaving a drain. CONCLUSIONS: Laparoscopic nephropexy for symptomatic nephroptosis using TVT is a technically feasible and safe procedure with excellent surgical and cosmetic results.

Adult↗

Clinical symptoms in localized renal cell carcinoma reflect its invasive potential: comparative study between incidentally detected and symptomatic diseases.

The objectives of this study were to analyze the association of clinical symptoms with several parameters in patients with organ-confined renal cell carcinoma (RCC), and investigate the difference in biologic characteristics between incidentally detected and symptomatic RCCs. This study included 132 patients who were pathologically diagnosed with organ-confined RCC after radical surgery, and their clinicopathologic features were compared to those in patients with incidentally detected and symptomatic diseases. In this series, 91 patients were incidentally diagnosed with RCC, while the remaining 41 had some clinical symptoms. The cause-specific survival in patients with incidental RCC was significantly higher than that in patients with symptomatic RCC, and the presence of clinical symptoms could be an independent predictor of cause-specific survival in these patients. Immunohistochemical staining of resected specimens from these patients were then performed with Ki-67, Bcl-2, matrix metalloproteinase (MMP)-2, MMP-9, and vascular endothelial growth factor antibodies. Despite the lack of differences in Ki-67, Bcl-2, and vascular endothelial growth factor expression between these 2 groups, significantly increased expressions of MMP-2 and MMP-9 in symptomatic RCCs were observed compared with those in incidental RCCs. Moreover, the presence of clinical symptoms in organ-confined RCC was significantly correlated with immunoreactivities of MMP-2 and MMP-9. These findings suggest that clinical symptoms have a significant impact on the prognosis of patients with organ-confined RCC and that the appearance of clinical symptoms may reflect the increased invasive potentials characterized by overexpression of MMPs.

Adenocarcinoma, Clear Cell↗

Detection of recurrent cervical cancer by whole-body FDG PET scan in asymptomatic and symptomatic women.

OBJECTIVE: To determine the ability of whole-body [(18)F]fluoro-2-deoxyglucose (FDG) positron emission tomography (PET) scan to detect recurrent cervical carcinoma in both symptomatic and asymptomatic women. MATERIALS AND METHODS: We retrospectively reviewed the records of 44 women previously treated for cervical cancer who underwent 47 posttreatment whole-body FDG PET scans in an attempt to detect recurrent disease. Twenty-six scans were performed in asymptomatic women, whereas 21 scans were performed in women with symptoms suggestive of recurrence. RESULTS: About 30.8% of asymptomatic women had recurrent disease detected by PET scan compared to 66.7% of women in the symptomatic group. The sensitivity of PET scan for recurrent disease in asymptomatic women was 80.0%, specificity of 100%, a positive predictive value of 100%, and a negative predictive value of 88.9%. For symptomatic women, the sensitivity of PET was 100%, specificity of 85.7%, a positive predictive value of 93.3%, and a negative predictive value of 100%. CONCLUSIONS: The whole-body FDG PET scan is a sensitive imaging modality for the detection of recurrent cervical carcinoma in both symptomatic and asymptomatic women.

Adult↗

Effective palliative radiotherapy for symptomatic recurrent or residual ovarian cancer.

OBJECTIVE: To evaluate the efficacy of radiotherapy (RT) for symptomatic recurrent or residual ovarian cancer. METHODS: A review was conducted on patients (pts) treated with palliative RT for symptomatic ovarian cancer at The Ottawa Hospital Regional Cancer Centre between 1990 and 2003. Patient demographics, tumor factors, treatment variables, and clinical outcome were entered into a database. Symptom response was defined as complete (CR), partial (PR), or none. RESULTS: 62 courses of RT were delivered to 53 pts. The symptoms treated were: bleeding (40%), pain (37%), and "others" (23%). The most common dose fractionation scheme was 30 Gy in 10 fractions (f) (range: 5 Gy/1 f to 52.5 Gy/20 f). The overall response rate was 100%, with 68% achieving a CR. The CR rates were 88, 65, and 36% for the symptoms of bleeding, pain, and "others", respectively (P = 0.003). The median duration of response was 4.8 months (range: 1-71 months). In multivariate analysis, the only factors that were found to be significant positive predictors of symptom control were: the symptom bleeding (P = 0.015) and stage III/IV disease at presentation (P = 0.01). The most commonly reported toxicities were grades 1 and 2 nausea/vomiting and diarrhea. There were no grade 3/4 toxicities reported. CONCLUSIONS: Radiotherapy is highly effective in palliating symptomatic ovarian cancer. Excellent results are achieved for patients presenting with bleeding or pain. Symptomatic patients should be strongly considered for palliative radiotherapy. Higher doses of radiotherapy should be considered for those with symptoms other than bleeding or pain and those with longer life expectancies.

Adult↗

Long-term efficacy and safety of propafenone and sotalol for the maintenance of sinus rhythm after conversion of recurrent symptomatic atrial fibrillation.

This study was performed to evaluate, using a randomized double-blind, placebo-controlled protocol, the long-term efficacy and safety of propafenone and sotalol in maintaining sinus rhythm after conversion of recurrent symptomatic atrial fibrillation (AF). The maintenance of sinus rhythm in patients with recurrent AF has several potential benefits, the most important being a reduced risk of thromboembolic events. Three hundred patients with recurrent AF (> or = 4 episodes in the last year) and AF at enrollment lasting < 48 hours were randomized to receive either propafenone (mean daily dose 13 +/- 1.5 mg/kg; 102 patients), sotalol (mean daily dose 3 +/- 0.4 mg/kg; 106 patients), or placebo (92 patients). After 1-year follow-up, Kaplan-Meier estimates of the proportion of patients remaining in sinus rhythm were comparable between propafenone (63%) and sotalol (73%) and superior to placebo (35%; p = 0.001 vs both drugs). Symptomatic recurrences occurred later with propafenone and sotalol than with placebo. Nine patients (9%) in the propafenone group, 11 (10%) in the sotalol group, and 3 (3%) in the placebo group discontinued therapy due to adverse effects. Malignant nonfatal arrhythmias due to proarrhythmic effects were documented with sotalol only, and occurred < 72 hours from the beginning of therapy in 4 patients (4%). During recurrences, the ventricular rate was significantly reduced in patients taking propafenone and sotalol (p = 0.001 for both drugs vs placebo). The likelihood of remaining in sinus rhythm during follow-up was higher in younger patients with smaller left atrial size and without concomitant heart disease. In patients with recurrent symptomatic AF, propafenone and sotalol are not significantly different from each other and are superior to placebo in maintaining sinus rhythm at 1 year. Recurrences occur later and tend to be less symptomatic with propafenone and sotalol compared with placebo.

Administration, Oral↗

Maintenance of sinus rhythm with oral d,l-sotalol therapy in patients with symptomatic atrial fibrillation and/or atrial flutter. d,l-Sotalol Atrial Fibrillation/Flutter Study Group.

Currently d,l-sotalol is widely used to prevent recurrence of atrial fibrillation and/or atrial flutter, although a randomized dose-response study has not previously been conducted to guide therapy for this indication. This study summarizes findings of a double-blind, placebo-controlled, multicenter, randomized trial evaluating the efficacy, safety, and dose-response relation of 3 fixed doses of d,l-sotalol (80, 120, and 160 mg twice daily) for the maintenance of sinus rhythm in 253 patients with atrial fibrillation and/or atrial flutter. All patients were in sinus rhythm at randomization. Treatment (69 patients on placebo, 59 on 80 mg, 63 on 120 mg, and 62 on 160 mg given twice daily) was continued for 12 months or until documented recurrence of symptomatic atrial fibrillation and/or flutter. Transtelephonic electrocardiographic monitoring was used to detect symptomatic recurrences. Demographic characteristics were not different in the 4 groups. Structural heart disease was present in 57% of patients. Patients with a history of heart failure were excluded. The time from randomization to symptomatic arrhythmia recurrence was significantly longer in the 2 higher d,l-sotalol dose groups than in the placebo group. The median times to recurrence were 27, 106, 229, and 175 days for the placebo, 80, 120, and 160 mg groups, respectively. There were no deaths or cases of torsade de pointes, sustained ventricular tachycardia, or ventricular fibrillation reported. Thus, d,l-sotalol appeared to be both safe and effective in maintaining sinus rhythm in patients with symptomatic atrial fibrillation and/or flutter. Further, the 120-mg twice daily dose appeared to provide the most favorable benefit and/or risk.

Anti-Arrhythmia Agents↗

Subclavian-external carotid bypass for symptomatic severe cerebral ischemia from common and internal carotid artery occlusion.

Occlusion of the common and internal carotid arteries in a patient with symptomatic severe cerebral ischemia, with or without contralateral carotid disease, portends a poor prognosis. The present study has described our experience with subclavian and external carotid artery revascularization for symptomatic severe cerebral ischemia from common and internal carotid artery occlusion. Nine patients (five men and four women) with a mean age of 62 (range 41 to 82 years) were diagnosed as having symptomatic severe cerebral ischemia. All patients had ipsilateral hemispheric symptoms, seven had amaurosis fugax, and two had associated syncope. Four patients (three men and one woman) were hypertensive, four (two men and two women) had diabetes, eight smoked, and all had a history of coronary artery disease. All of the patients had noninvasive laboratory studies and preoperative angiography, and three had postoperative angiography. Five patients were successfully revascularized to a patent external carotid artery despite nonvisualization by angiography. Six patients had unilateral and three bilateral occlusion of the common and internal carotid arteries appropriate to their symptoms. Using regional anesthesia, four patients underwent a subclavian-external carotid bypass with polytetrafluoroethylene; saphenous vein was used in five; and three had concomitant axilloaxillary bypass grafting with polytetrafluoroethylene. Neurologic improvement (that is, no subsequent deficit and no progression of symptoms) was noted in all nine patients with a follow-up of 4 to 28 months (mean 11.2 months). Two patients died from myocardial infarction 4 and 7 months after operation. Subclavian-external carotid artery bypass is a safe addition to the options for the treatment of symptomatic severe cerebral ischemia with occlusion of the common and internal carotid arteries, visualization of a superior thyroid collateral vessel on the recipient end, and nonvisualization of the external carotid artery.

Adult↗

Emergency operation in patients with symptomatic abdominal aortic aneurysms.

To assess the need for routine preoperative computerized tomography scanning to discern patients with rupture among those presenting with acutely symptomatic abdominal aortic aneurysms, a retrospective review was performed. During a 5-year period, all patients presenting with symptomatic aneurysm underwent emergency operation without preoperative computerized tomography. The mortality rate was not significantly different among patients with symptomatic, intact aneurysms undergoing emergency operation (3 percent) and those without symptoms having elective operation (5 percent). The mortality rate of patients with ruptured aneurysms was 68 percent. We concluded that the addition of preoperative computerized tomography to the clinical evaluation would not have improved these results. Furthermore, since it is expensive and delays emergency operation in patients with ruptured aneurysms, computerized tomography seems rarely indicated in symptomatic patients with obvious aneurysms.

Aged↗

Prevention of symptomatic patent ductus arteriosus with a single dose of indomethacin.

To determine the efficacy of indomethacin to prevent the occurrence of symptomatic patent ductus arteriosus (PDA), a randomized clinical trial was conducted involving 32 preterm infants weighing 750 to 1500 g at birth who had hyaline membrane disease. By random assignment, 15 infants were given a single dose of indomethacin, 0.2 mg/kg intravenously, 24 hours after birth. Seventeen infants composed a control group for which indomethacin was reserved as treatment for symptomatic PDA. Birth weight, gestational age, male/female ratio, black/white ratio, and severity of disease were similar for both groups. Only one of the 14 survivors who received prophylactic indomethacin had symptomatic PDA, compared with nine of the 16 survivors in the control group (P = 0.007). There was no difference between the groups in development of bronchopulmonary dysplasia, duration of time endotracheal intubation, was required, duration in oxygen, duration to reach full feedings and regain birth weight, and duration of hospital stay. There was no difference between the two groups in incidence of intraventricular hemorrhage, and none developed necrotizing enterocolitis. These results indicate that the use of prophylactic indomethacin is beneficial in prevention of symptomatic PDA; the lack of differences in pulmonary sequelae or other complications may have been related to a population sample size not large enough to impart sufficient statistical power.

Birth Weight↗

Symptomatic myocardial ischemia and everyday life: implications for clinical use of interactive monitoring.

In coronary heart disease (CHD), pathological myocardial ischemic changes do not always occur with the symptom of heart pain. Methodological problems make it difficult to examine the factors that influence silent and symptomatic myocardial ischemia in everyday life. This study uses a computer-assisted monitoring system with an interactive Holter ECG, an actometer, and an electronic diary. Self-report measurements indicate that symptomatic patients tend toward increased neuroticism, whereas asymptomatic patients engage in beneficial and active coping skills more frequently. The results of the monitoring study demonstrate the same degree of ischemia in silent and symptomatic episodes. However, these episodes show differences in certain psychological context variables. Symptomatic episodes are linked to high subjective strain and severe tension. Because angina pectoris is not a reliable warning signal of myocardial ischemia, the use of the interactive monitoring system is recommended for educating CHD patients on how to cope with excessive strain in everyday life.

Adaptation, Psychological↗

Randomized double-blind study comparing the effectiveness of balloon dilation of the prostate and cystoscopy for the treatment of symptomatic benign prostatic hyperplasia.

We attempted to determine the effectiveness of balloon dilation of the prostate for the treatment of symptomatic benign prostatic hyperplasia (BPH). A total of 33 men with symptomatic BPH signed informed consent to participate in a randomized, double-blind study comparing balloon dilation of the prostate and cystoscopy. Balloon dilation of the prostate and cystoscopy were performed with the patient under intravenous sedation after intraurethral instillation of viscous lidocaine and infiltration of the autonomic neural innervation of the prostate with 1% lidocaine. Efficacy was based upon improvement in Boyarsky symptom scores, increases in peak urinary flow rates and patient global assessment of symptomatic improvement. Efficacy was assessed at 1 and 3 months after treatment. A study nurse blinded to the randomization scheme administered the symptom score questionnaires and supervised the uroflowmetry studies. The study was randomized, since the mean baseline prostate sizes, peak urine flow rates, obstructive and irritative symptoms scores, post-void residual volumes and patient ages were similar in the 2 groups. The patient perceptions of treatment rendered were similar for the 2 treatment groups, confirming that the study was double-blind. The patients undergoing cystoscopy and balloon dilation of the prostate experienced a statistically significant improvement in the mean total symptom scores at 1 and 3 months. The mean total symptom scores after balloon dilation of the prostate and cystoscopy at 1 and 3 months were not significantly different. The mean peak urinary flow rates 1 and 3 months after balloon dilation of the prostate and cystoscopy were not significantly different from the baseline mean peak urinary flow rates. We demonstrate that balloon dilation of the prostate and cystoscopy are equally effective for the treatment of BPH. Since cystoscopy is considered a diagnostic modality, our study suggests that the efficacy previously observed after balloon dilation of the prostate is primarily placebo-related. The study does not support the indication of balloon dilation of the prostate for the treatment of symptomatic BPH.

Aged↗

Symptomatic recurrent urinary tract infections in patients with renal scarring in relation to fecal colonization with P-fimbriated Escherichia coli.

We evaluated prospectively 49 women with renal scarring and a history of febrile urinary tract infections in regard to the incidence of recurrent symptomatic urinary tract infection and fecal colonization with P-fimbriated Escherichia coli. During a 3-year followup 26 patients (53 per cent) had symptomatic urinary tract infection (0.036 infections per patient-month), including 8 (16 per cent) who had 9 new episodes of febrile urinary tract infection, while 33 (67 per cent) had Escherichia coli bacteriuria (10(5) bacteria per ml. urine in pure culture). Thus, patients with previous febrile urinary tract infections and renal scarring have a high risk for recurrent infections. For comparison, the incidence of symptomatic urinary tract infection also was determined in 35 women with a recent episode of acute nonobstructive pyelonephritis and with normal kidneys on excretory urography. These patients had 0.031 symptomatic infections per patient-month. The fecal flora were examined twice a year for P-fimbriated Escherichia coli in 48 patients with renal scarring. Of these patients 21 (44 per cent) had at least 1 fecal colonization with a P-fimbriated Escherichia coli strain. However, in only 1 instance was a relationship detected between the presence of P-fimbriated Escherichia coli in the fecal flora and the development of subsequent febrile urinary tract infection. The findings indicate that fecal sampling twice a year is not of value to predict future urinary tract infections in adults with renal scarring.

Adult↗

Symptomatic nephrolithiasis complicating pregnancy.

OBJECTIVE: To review our experiences with diagnosis and management of symptomatic nephrolithiasis complicating pregnancy and to ascertain the efficacy of renal sonography for initial diagnosis compared with plain x-rays or single-shot intravenous pyelography. METHODS: Perinatal outcomes were evaluated for all pregnant women admitted to Parkland Hospital for nephrolithiasis from 1986 to 1999. Diagnostic studies and management of nephrolithiasis were also evaluated. RESULTS: During the 13-year study period, 57 pregnant women had 73 admissions for symptomatic nephrolithiasis. Symptomatic nephrolithiasis complicated 1 in 3300 (0.03%) deliveries at our institution. Only 12 women (20%) had a history of renal calculi. Mean gestational age at diagnosis was 23 weeks. Imaging techniques included renal ultrasonography, plain abdominal x-ray, and single-shot intravenous pyelography. Calculi were visualized in 21 of 35 (60%) renal ultrasonographic examinations and 4 of 7 (57%) abdominal x-ray studies when these were performed as the initial test. In contrast, urolithiasis was discovered in 13 of 14 (93%) instances in which intravenous pyelography was performed as the initial diagnostic test. When sonography was negative (n = 14), renal calculi were confirmed by single-shot intravenous pyelography (n = 8). Although 43 of 57 (75%) of symptomatic episodes responded to conservative management, 10 women required ureteral stents, 3 needed percutaneous nephrostomy tubes, and 2 underwent ureteral laser lithotripsy for resolution. CONCLUSION: Although the convenience and safety of ultrasonography to initially diagnose nephrolithiasis are indisputable, 40% of calculi were missed when this method alone was used. Thus, if nephrolithiasis is still suspected clinically despite ultrasonographic findings, single-shot pyelography is recommended.

Adult↗

Laparoscopic ablation of symptomatic parenchymal and peripelvic renal cysts.

OBJECTIVES: To assess the safety and efficacy of laparoscopic ablation of symptomatic renal cysts as minimally invasive therapeutic techniques have largely supplanted open surgical intervention for the treatment of symptomatic renal cysts. METHODS: The records of 32 consecutive adult patients who underwent laparoscopic ablation of renal cysts (11 peripelvic, 21 parenchymal) were retrospectively reviewed. All patients were symptomatic at presentation; 26 had a single cyst, 5 had two cysts, and 1 had four cysts. RESULTS: Twenty patients underwent a transperitoneal laparoscopic approach, and 12 patients underwent a retroperitoneal laparoscopic approach. An average of 3.2 ports were used for each procedure, and no open conversions or transfusions were necessary. When comparing patients with parenchymal and peripelvic cysts, statistically significant differences were noted in the mean operative time (164 versus 233 minutes, respectively; P = 0.003) and mean operative blood loss (98 versus 182 mL, respectively; P = 0.04). Four patients (13%) had complications (one major and three minor), including a persistent ureteral stricture. One patient with negative preoperative aspiration cytology and negative intraoperative frozen section analysis was later found to have malignancy within the cyst wall, necessitating radical nephrectomy and trocar site excision. One patient (3%) developed a recurrence. CONCLUSIONS: Laparoscopic ablation of symptomatic renal cysts is a safe and efficacious procedure. We report an overall complication rate of 13% and a recurrence rate of 3% with a mean follow-up of 18.1 months (median 10.0).

Adult↗

Laterality of symptomatic cystine calculi.

OBJECTIVES: To evaluate patterns of laterality in cystine stone formation to determine whether phenotypic expression of this genetic disease is distributed equally in each kidney. Cystinuria is a genetic defect that may result in the formation of recurrent cystine calculi. Significant nongenetic factors may play a role in the manifestation of this disease. METHODS: Thirty-four patients seen in the Stone Center at the University of California, San Francisco were retrospectively evaluated for treatments and patterns of symptomatic stone formation between 1989 and 2002. A conservative surgical regimen and routine radiographic examinations were used. Treatments were used as a surrogate for development of symptomatic calculi. RESULTS: The mean age at last follow-up was 38.2 years. The mean age at presentation was 18 years. The 34 patients underwent a total of 249 procedures, averaging 7.3 procedures per patient. Of the 34 patients, 29% required only unilateral surgery and formed unilateral symptomatic calculi exclusively (P <0.0001) during their lifetime. Of the 10 patients with unilateral stone formation, 2 (20%) were female and 8 (80%) were male. Of the 24 patients with bilateral stone formation, 12 (50%) were female and 12 (50%) were male. Of the 10 patients with unilateral stone formation, 6 developed left-sided calculi and 4 developed right-sided calculi. CONCLUSIONS: A subset of one third of patients with cystine stone formation will develop unilateral calculi exclusively during their lifetime. Understanding why the contralateral side did not form stones may provide insight into novel prophylactic regimens. The etiology of symptomatic unilateral cystine nephrolithiasis is unknown, but anatomic and external triggers should be considered.

Adult↗