Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0392525 (nephrolithiasis)
 2,669 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The aim of our study is to determine the efficacy and safety of extracorporeal shock wave lithotripsy (ESWL) as a method of treatment of nephrolithiasis in childhood. Between 1986 and 1994, 50 children with renal calculi were treated by ESWL in our department. The age of the children ranged from 8 months to 14 years. Thirty-three of them were boys and 17 girls. The stone location was in the renal pelvis in 38 cases, in the upper renal calyx in 4 cases, in the lower calyx in 2, while 6 children had staghorn calculi. The stone size ranged between 3 and 39 mm. All treatments were performed with Dornier HM4 except 12 children, all older than 10 years, who underwent ESWL with Dornier HM3. All ESWL procedures took place under general anesthesia or sedation with ketamine. The number of shock waves varied between 400 and 2,000 per treatment and the standard maximum generator voltage was 18 kV. The overall stone clearance rate at 1 month was 66%. Fourteen children with large residual fragments underwent a second ESWL procedure 3 months later. With a mean follow-up of 33 months, 41 children (82%) are stone-free. Ten children developed urinary tract infection and 5 Steinstrasse. Twelve children had a pre- and post-ESWL DMSA scan and no permanent impairment of renal function was observed. We conclude that ESWL is the treatment of choice for urinary tract lithiasis in childhood. It is a low-risk method, without serious complications, which yields as high a success rate in children as in adults. We believe that as the stone fragmentation and clearance is much higher in children that in adults, the method must be the initial approach and may be the monotherapy even in staghorn or complex stones.
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PMID:Extracorporeal shock wave lithotripsy for renal stones in children. 865 16

OCRL mutations, which are a hallmark of Lowe syndrome, have recently been found in patients with isolated renal phenotype (Dent-2 disease). In this report, we describe clinical and laboratory features in five Macedonian children with mutations in the OCRL gene. Children with a clinical diagnosis of Lowe syndrome or Dent disease underwent complete neurological and ophthalmological examination, imaging of the kidney and urinary tract, assessment of renal tubular function, and mutation analysis of the OCRL gene. Two children (18 months and 11 years, respectively) were diagnosed with Lowe syndrome on the basis of congenital cataracts, severe psychomotor retardation, and renal dysfunction. Both children had low molecular weight proteinuria (LMWP) and hypercalciuria, but not Fanconi syndrome. The older one had bilateral nephrolithiasis due to associated hypocitraturia and mild hyperoxaluria. Three children with asymptomatic proteinuria were diagnosed with Dent-2 disease; none had cataracts or neurological deficit. One child showed mild mental retardation. All had LMWP, hypercalciuria, and elevated enzymes (creatine phosphokinase, lactic dehydrogenase). All three children had an abnormal Tc-99m DMSA scan revealing poor visualization of the kidneys with a high radionuclide content in the bladder; none had nephrolithiasis or nephrocalcinosis. In conclusion, children with OCRL mutations may present with very mild phenotype (asymptomatic proteinuria with/without mild mental retardation) or severe classic oculocerebrorenal syndrome of Lowe. Elevated enzymes and abnormal results on the Tc-99m DMSA scan may be useful indicators for Dent-2 disease.
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PMID:Clinical and laboratory features of Macedonian children with OCRL mutations. 2124 96

Crossed renal ectopia is a rare urinary system anomaly which mostly is asymptomatic and is diagnosed incidentally. Urinary obstruction, infection, and neoplasia of the urinary system and nephrolithiasis are main complications of this anomaly. A 6-year-old boy admitted to the hospital with colicky abdominal pain and nausea. Abdominal examination revealed tenderness in right lower quadrant. Urine analysis and culture were normal. Kidney ultrasonography showed right kidney in pelvis cavity with no kidney tissue in left side. TC 99-DMSA scan demonstrated no radiotracer accumulation in the normal renal area. Radiotracer accumulation was seen in the pelvis area with a deviation to the left. Voiding cystoureterogram revealed right sided grade II vesicoureteral reflux. Severe urological anomalies in children may be asymptomatic or have nonspecific symptoms such as abdominal pain.
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PMID:Cross-fused renal ectopia associated with vesicoureteral reflux; a case report. 2768 23