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Query: UMLS:C0020500 (hyperoxaluria)
 912 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In children, tubulo-interstitial nephritis (TIN) is often associated with obstructive uropathy, metabolic disorders or hereditary diseases. The author reviewed congenital metabolic disorders (Fanconi syndrome, cystinosis, Lowe's syndrome, and hyperoxaluria) as causes of TIN. The Fanconi syndrome is caused by numerous disorders including cystinosis and Lowe's syndrome, and refers to a dysfunction of the proximal tubule leading to excessive urinary excretion of amino acids, glucose, phosphate, bicarbonate, etc. Prognosis of idiopathic Fanconi syndrome is not so bad if electrofluid balance is well maintained. On the other hand, prognosis of the infantile type of cystinosis, Lowe's syndrome, or hyperoxaluria "type 1" is poor. The pathophysiology of each disease should be fully understood for early diagnosis and treatment.
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PMID:[Congenital metabolic disorder]. 756 41

Various endo- and exogenous factors play a role in the urinary stones formation tract. The aim of the study was to define the type and frequency of hyperexcretion of lithogenic substances in school children population and to determine an influence of risk factors on hyperexcretion of crystallizing substances. The study included 220 school children. Preurolithiasis state (PS) was found in 30% children. The most frequently hyperoxaluria, hyperuricosuria and hypercalciuria were diagnosed and it may be connected with abnormal nutritional habits, excessive application of multivitamins, vitamin D and calcium, disturbances in drinking water chemical composition (higher amount of calcium, smaller amount of magnesium, abnormal pH). Urinary tract infections, particularly in children with obstructive uropathy are an important risk factor in the examined population. Positive familial history of urolithiasis in 43.3% children may indicate for the important role of the genetic factor in the pathogenesis of the disease.
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PMID:[The role of environmental factors in the formation of kidney calculi]. 1089 97

Primary hyperoxaluria (PH1) is a condition caused by a hepatic-based enzyme defect which can lead to renal failure due to oxalate stone disease, obstructive uropathy and nephrocalcinosis. It has been shown that the underlying metabolic defect can be corrected by liver transplantation and in most cases (renal failure having already occurred) is accompanied by a kidney graft. This paper describes the current results of 127 liver transplants performed in 117 patients over a 20-year period from 1984 to 2004 in 35 European centres. The mean age at onset of symptoms was 5.6 +/- 7.8 years and the mean age at which a diagnosis was made was 8.8 +/- 9.5 years. The diagnosis was confirmed by liver biopsy proven decreased AGT activity in 68% of cases, hyperoxaluria in 74%, hyperglycolicaciduria in 37% and hyperoxalaemia in 50%. Patients were transplanted at a mean age of 16.5 +/- 11.4 years following a period of dialysis of 3.2 +/- 3.2 years (range 0-14.4 years). 1-, 5- and 10-year patient survival values were 86, 80 and 69%, respectively, and liver graft survival rates of 80, 72 and 60% at the same time intervals. There have been 27 deaths and 10 liver retransplants have been carried out. Patient outcomes are improved when prolonged periods on dialysis and the complications of systemic oxalosis have not occurred.
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PMID:A 20-year experience of combined liver/kidney transplantation for primary hyperoxaluria (PH1): the European PH1 transplant registry experience 1984-2004. 1596 48

The first case of man who presented to psychiatry emergency room for evaluation of abnormal behavior because of urinary stones was reported. Careful evaluation of patient led to a diagnosis of 37 urinary bladder stones in an Egyptian man with obstructive uropathy and metabolic defects in the form of hyperoxaluria and hypocitraturia. Knowledge of the differential diagnosis of metabolic defects can lead to successful outcome in preventing reformation of urinary tract stones after surgery. A 61-year-old Egyptian man presented to psychiatry emergency room because he was found lying on floor in bathroom to urinate by his wife who thought her husband needed psychiatric evaluation. Patient gave history of frequent urination and dysuria on and off for 3 years. In the last 3 months before his presentation to emergency room, he got into a habit of lying down on his left side when he went to bathroom to urinate because it was easier for him to pass urine. Renal consultation requested because of presence of red blood cells in urinalysis. Computed tomography of the abdomen and pelvis showed bilateral hydronephrosis and multiple bladder stones. Twenty-four-hour urine collection showed low urinary citrate and high oxalate. Patient underwent open vesicolithotomy and removal of 36 stones. Stone analysis showed 75% uric acid and 25% calcium oxalate. Patient did very well after surgery, and 1 month later, he underwent transuretheral resection of prostate without any complications. Now patient has no difficulty passing urine and he has no recent attack of urinary tract infection. Knowledge of the differential diagnosis of metabolic defects in men with urinary bladder stones would hopefully provide clinicians with the proper diagnostic tools to more specifically treat such patients with improved success in preventing reformation of urinary tract stones after surgery.
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PMID:Initial presentation in psychiatry emergency room led to diagnosis of many urinary bladder stones in a male patient. 2329 32