Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034186 (pyelonephritis)
 6,144 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reevaluated the medical records of 112 children with urolithiasis. The prevalence of this condition was 1/4.500 children admitted to our hospital. The mean age was 8.2 years and 54.4% of the afflicted patients were males. Fifty percent of the patients studied had a family history of urolithiasis. The two most frequent etiologies were urinary tract infections and metabolic disorders (hypercalciuria states, distal renal tubular acidosis and cystinuria). The etiology of the urolithiasis was unknown in 15% of our patients. The levels of magnesium and citrate, inhibitors of crystallization, were moderately low in some of the cases in which it was determined. Fifty percent of the children with urolithiasis showed urinary or renal complications. The extracorporeal lithotripsy was an effective treatment of urolithiasis in the patients in which it was performed. The recurrence rate was 8%. In one third of the urolithiasis associated with urinary infections and/or urinary tract malformations we found chronic pyelonephritis.
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PMID:[Nephrolithiasis in children]. 883 May 95

Urolithiasis in cystinuria in a 3-year old boy with renal hypoplasia is described. We suppose that destruction of the kidney was caused by stones acting as foreign bodies and causing non-recognized pyelonephritis.
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PMID:[Cystinuria as a cause of urolithiasis in a 3-year-old boy with a small kidney]. 1022 49

Recent population studies have found symptomatic kidney stone formers to be at increased risk for chronic kidney disease (CKD). Although kidney stones are not commonly identified as the primary cause of ESRD, they still may be important contributing factors. Paradoxically, CKD can be protective against forming kidney stones because of the substantial reduction in urine calcium excretion. Among stone formers, those with rare hereditary diseases (cystinuria, primary hyperoxaluria, Dent disease, and 2,8 dihydroxyadenine stones), recurrent urinary tract infections, struvite stones, hypertension, and diabetes seem to be at highest risk for CKD. The primary mechanism for CKD from kidney stones is usually attributed to an obstructive uropathy or pyelonephritis, but crystal plugs at the ducts of Bellini and parenchymal injury from shockwave lithotripsy may also contribute. The historical shift to less invasive surgical management of kidney stones has likely had a beneficial impact on the risk for CKD. Among potential kidney donors, past symptomatic kidney stones but not radiographic stones found on computed tomography scans were associated with albuminuria. Kidney stones detected by ultrasound screening have also been associated with CKD in the general population. Further studies that better classify CKD, better characterize stone formers, more thoroughly address potential confounding by comorbidities, and have active instead of passive follow-up to avoid detection bias are needed.
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PMID:Chronic kidney disease in kidney stone formers. 2178 25

Inherited kidney diseases constitute at least 150 different disorders and they have an overall prevalence of about 6080 cases per 100 000 in Europe and in USA. At least 10% of adults and nearly all children who progress to renal-replacement therapy have an inherited kidney disease, representing the fifth most common cause of end-stage renal disease after diabetes, hypertension, glomerulonephritis, and pyelonephritis. These conditions include both structural and functional disorders, among which are counted diseases resulting from inborn errors of metabolism (IEM). Some inborn errors of metabolism primarily affect kidney and because of progress in renal replacement therapy, patients with inherited kidney disorders rarely die when their disease progresses and can live for many years. However, these patients often have compromised health with a poor quality of life. Renal transplantation offers a viable treatment option for those inborn errors of metabolism characterized by primary renal damage caused by dysfunction of a mutated protein, as in cystinuria. In this case, the indication to renal transplantation makes it possible to overcome the specific enzyme defect. However this option remains valid even when the genetic defect is expressed systemically and renal involvement is just one of the clinical manifestations of the disease, as in Anderson-Fabry disease, cystinosis, hereditary amyloidosis and primary hyperoxaluria. In these conditions, renal transplantation is combined with the liver (primary hyperoxaluria) or cardiac transplant (familial amyloidosis) improving the quality and life expectancy of patients.
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PMID:[Kidney Transplantation and inborn errors of metabolism]. 2600 41

Inherited kidney diseases constitute at least 150 different disorders and they have an overall prevalence of about 6080 cases per 100,000 in Europe and in USA. At least 10% of adults and nearly all children who progress to renal-replacement therapy have an inherited kidney disease, representing the fifth most common cause of end-stage renal disease after diabetes, hypertension, glomerulonephritis, and pyelonephritis. These conditions include both structural and functional disorders, among which are counted diseases resulting from inborn errors of metabolism (IEM). Some inborn errors of metabolism primarily affect kidney and because of progress in renal replacement therapy, patients with inherited kidney disorders rarely die when their disease progresses and can live for many years. However, these patients often have compromised health with a poor quality of life. Renal transplantation offers a viable treatment option for those inborn errors of metabolism characterized by primary renal damage caused by dysfunction of a mutated protein, as in cystinuria. In this case, the indication to renal transplantation makes it possible to overcome the specific enzyme defect. However this option remains valid even when the genetic defect is expressed systemically and renal involvement is just one of the clinical manifestations of the disease, as in Anderson-Fabry disease, cystinosis, hereditary amyloidosis and primary hyperoxaluria. In these conditions, renal transplantation is combined with the liver (primary hyperoxaluria) or cardiac transplant (familial amyloidosis) improving the quality and life expectancy of patients.
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PMID:[Kidney Transplantation and inborn errors of metabolism]. 2647 53