Cases reported "Urinary Calculi"

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11/250. The association of neurofibromatosis and hyperparathyroidism.

    Two patients with coexisting neurofibromatosis and hyperparathyroidism are described, bringing the total number of such cases in the world literature to seven. Other more classic examples of the association of tumorous conditions of neuroectodermal and entodermal origin are discussed to support the suggestion that the association of these two diseases may be another variant of multiple endocrine neoplasia type 2 (MEN2b). It may be clinically profitable to investigate all patients with either disease in order to uncover their coexistence. ( info)

12/250. urolithiasis following formation of a continent urostomy: case report and review of the literature.

    BACKGROUND: Formation of urinary stones in a continent urostomy (indiana pouch) has been described as a late complication. Management of a patient with symptomatic multiple large stones and review of the literature are outlined. CASE REPORT: A 32-year-old woman presented with recurrent urinary tract infections and pyelonephritis 6 years after a total pelvic exenteration and creation of a continent urostomy for central recurrent carcinoma of the cervix after radical pelvic radiation. Multiple large stones were found to be the underlying etiology. laparotomy, enterocystotomy, and removal of stones were performed without apparent complication. CONCLUSION: It is recommended that for single calculi or multiple small stones, electroshock wave lithotripsy or the percutaneous endoscopic approach be considered. For larger stones the use of laparotomy and enterocystostomy may be appropriate. ( info)

13/250. Matrix calculi.

    Matrix calculi are an uncommon form of urinary tract concretion. They must be considered in the differential diagnosis of a radiolucent mass within the renal collecting system or ureter. The clinical and radiographic features of three cases are presented and the literature of matrix calculi is reviewed. ( info)

14/250. Pediatric urolithiasis in southern israel: the role of uricosuria.

    We describe three cases of severe obstructive uropathy in children under 2 years of age, due to radiolucent renal stones. Metabolic work-up revealed only normouricemic hyperuricosuria (HU) as the single identifiable risk factor for urolithiasis (UL) in these infants. We reviewed records of 66 cases of pediatric UL seen in our service over an 8-year period. UL prevalence was greater for Bedouin than for Jewish children (1.02 vs. 0.13 cases/1,000 inhabitants at risk respectively, P<0.01). HU (>0.6 mg uric acid/dl GFR) was the only biochemical risk factor that differed between Bedouin and Jewish children (mean uric acid excretion index 0.8 /-0.39 vs. 0.55 /-0.26 mg/dl GFR respectively, P<0.05). Bedouin children comprised 85% of patients in the HU group versus 59% in the non-hyperuricosuric group (P<0.05). The mean age of onset of UL was 38 /-44 months and 93 /-52 months in the HU and the non-HU group, respectively (P<0.05). The UA excretion index in the HU group was inversely correlated with age (r=0.41, P<0.01) and its slope and constant were different from an age-matched non-UL control population. In conclusion, pediatric UL in southern israel is predominant in Bedouin toddlers. HU was the only identifiable biochemical risk factor that could explain this difference. ( info)

15/250. 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.

    We have examined the mutational basis of adenine phosphoribosyltransferase (APRT, EC deficiency (MIM 102600) in a patient of Polish origin who has been passing 2,8-dihydroxyadenine (DHA) stones since birth, but has considerable residual enzyme activity in lymphocyte extracts. The five exons and flanking regions of APRT were amplified by PCR and then sequenced. A single T insertion was identified at the intron 4 splice donor site (TGgtaa to TGgttaa:IVS4 2insT) in one allele from the proband, his mother, and brother. A G-to-T transversion in exon 5 (GTC-to-TTC:c.448G>T, V150F) was identified in the other allele, and this mutation was also present in one allele from the father and the paternal grandmother. Tru91 and AvaII digestions of PCR products spanning exons 4 and 5, respectively, confirmed the mutations. The mother was heterozygous for an intragenic TaqI site, but all other family members were homozygous for the presence of this site. IVS4 2insT, located on the allele containing the TaqI site, has been identified previously in several families from europe, suggesting a founder effect, but the substitution in exon 5 is a novel mutation. IVS4 2insT is known to result in complete loss of enzyme activity, and our results suggest that V150F produces an enzyme that is nonfunctional in vivo but has considerable residual activity in vitro. ( info)

16/250. Ureteroduodenal fistula.

    A patient with pneumaturia was found to have a ureteroduodenal fistula, only the fourth such lesion reported. However, this patient is unique in that a fistula developed between the stump of a ureter and the duodenum in the absence of a kidney on that side. This case was namaged with a distal skin ureterostomy, thereby avoiding extremely hazardous surgery in the area of the duodenum. This successful conservative managemant offers a sharp contrast to the recommended management of reno-alimentary fistulas. The possible cause in this case based on roentgenographic analysis is discussed. ( info)

17/250. Felbamate urolithiasis.

    PURPOSE: To report a case of felbamate (FBM) urolithiasis. methods: Urographic imaging [sonography, abdominal computed tomography (CT), intravenous pyelogram, voiding cystourethrogram] and urologic procedures (cystoscopy with lithotripsy, ureteral stent) to define and capture the stones. Stone identification was by infrared spectroscopy and gas chromatography/mass spectrometry. RESULTS: A 15-year-old boy had painful hematuria, bilateral ureteral obstruction, and urinary retention. kidney, bladder, and ureteral stones were found, and ureteral stent placement was required to relieve obstruction. The stone material was identified as FBM by chemical analysis. Stone formation ceased with discontinuation of FBM. CONCLUSIONS: FBM urolithiasis can occur, and possible contributory factors include high felbamate dosage, drug polypharmacy, and risk factors for forming stones of other types. FBM urolithiasis may be heralded by crystalluria. ( info)

18/250. Bilateral extracorporeal shock wave lithotripsy in a spinal cord injury patient with a cardiac pacemaker.

    OBJECTIVES: To review the precautions to be observed before and during extracorporeal shock wave lithotripsy (ESWL) in spinal cord injury (SCI) patients with a cardiac pacemaker and the safety of bilateral ESWL performed on the same day. DESIGN: A case report of bilateral ESWL in a SCI patient with a permanent cardiac pacemaker. SETTING: The Regional spinal injuries Centre, Southport, the lithotripsy Unit, the Royal Liverpool University hospitals NHS trust, Liverpool, and the Department of cardiology, Manchester Royal Infirmary, Manchester, UK. SUBJECT: A 43-year-old male sustained a T-4 fracture and developed paraplegia with a sensory level at T-2. During the post-injury period, he developed episodes of asystole requiring implantation of a dual chamber (DDD) permanent pacemaker. Twenty-one months later, he developed a right ureteric calculus with hydronephrosis. A radio-opaque shadow was seen in the left kidney with no hydronephrosis. During right ureteric stenting, the ureteric stone was pushed into the renal pelvis. 1,500 shock waves were delivered to this stone on the right side, followed by ESWL to the left intra-renal stone with 1250 shock waves. RESULTS: The patient tolerated ESWL to both kidneys. The pacemaker was reprogrammed to a single chamber ventricular pacing mode at 30 beats per minute with a reduced sensitivity during lithotripsy. There were no untoward cardiac events during or after lithotripsy. The serum creatinine was 45 micromol/l before lithotripsy and 44 micromol/l two weeks after ESWL. CONCLUSION: SCI patients with a cardiac pacemaker may be able to undergo extracorporeal shock wave lithotripsy following temporary reprogramming of the pacemaker. Bilateral, simultaneous ESWL is safe in the vast majority of patients provided that there is no risk of simultaneous ureteric obstruction by stone fragments. However, it should be remembered that a decrease in renal function could occur following bilateral ESWL of renal calculi. ( info)

19/250. Recurrent abdominal and flank pain in children with idiopathic hypercalciuria.

    OBJECTIVE: To evaluate the role of idiopathic hypercalciuria (IH) as a cause of recurrent abdominal pain (RAP) in children. patients AND methods: We retrospectively reviewed the medical records of 124 children referred for various complaints who had 24-h urine calcium excretion greater than 2 mg/kg/d or random urine calcium-creatinine ratio greater than 0.18 mg/mg. RESULTS: Fifty-two children with various clinical complaints had RAP or flank pain. These comprised of 22 males and 30 females, 9 mo to 15.9 y of age, mean 6.7 /- 3.5 y. A family history of urolithiasis was present in 50% of all the children. Only 6 of the 52 children with abdominal pain had renal stones. In addition to abdominal pain, 27 children had hematuria and 10 had urinary incontinence. Mild metabolic acidosis was present in three children, parathyroid hormone activity elevated in two and serum vitamin d activity was increased in nine. All children were treated with increased fluid intake and a reduction in dietary sodium and oxalate and some required treatment with thiazide and antispasmodics. Forty-five cases responded to treatment, 5 failed to improve from therapy, and 2, which were not followed up as patients, were not available. CONCLUSION: We describe 52 children with RAP or back pain due to IH and recommend that IH be considered in the differential diagnosis of RAP in childhood. ( info)

20/250. Chronic renal failure secondary to oxalate nephropathy: a preventable complication after jejunoileal bypass.

    Enteric hyperoxaluria is a commonly seen adverse event after the jejunoileal bypass procedure. The increased concentration of urinary oxalate predisposes bypass patients to various renal complications such as nephrolithiasis and oxalate nephropathy. If not diagnosed and appropriately treated, these complications can lead to irreversible renal damage. We describe 3 patients in whom severe renal complications developed with irreversible compromise of renal function after a jejunoileal bypass. patients who undergo a jejunoileal bypass require lifelong follow-up with close monitoring of their renal function. Marked decline in renal function mandates prompt investigation and aggressive intervention, including reversal of the jejunoileal bypass if necessary. Chronic renal failure secondary to oxalate nephropathy is preventable and treatable but may require conversion of a jejunoileal bypass to a more current form of bypass. ( info)
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