Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020500 (hyperoxaluria)
 912 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The detection of type I primary hyperoxaluria is based on the finding of exceedingly high oxalate excretion which is associated with increased glycolate excretion. The differential diagnosis of this disease may become a difficult task once end-stage renal disease (ESRD) and anuria have supervened. The various procedures thus far proposed to obviate this circumstance are complex, inaccurate or not reproducible. In this paper we propose the accurate liquid chromatographic determination of glycolate in blood and dialysate as a means to detect type I primary hyperoxaluria in patients on maintenance hemodialysis (RDT). The method is based on the enzymatic conversion of glycolate to glyoxylate coupled with alpha-keto acid derivatization with phenylhydrazine. The resulting phenylhydrazone is then resolved by high-performance liquid chromatograph (HPLC). With this method, plasma glycolate in 12 healthy controls was 7.8 +/- 1.7 mumol/liter, almost twentyfold less than previously reported. Five dialysis patients with high serum oxalate, of whom four with primary hyperoxaluria and one with Crohn's disease and presumed enteric oxalate hyperabsorption, were checked by this method and compared to nine patients with oxalosis-unrelated ESRD. The patients with hyperoxalemia were also evaluated for their response to pyridoxine therapy. The measurement of glycolate in blood drawn prior to and at the end of the dialysis session as well as in the dialysate soundly discriminated the patients with type I hyperoxaluria from all the other dialysis patients. Glycolate measurement was shown to be much more powerful than oxalate in that patients with oxalosis-induced ESRD exhibited an almost two hundred and fiftyfold increase compared to the oxalosis-unrelated patients.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Glycolate determination detects type I primary hyperoxaluria in dialysis patients. 200 28

An 8-year-old boy who had suffered from recurrent stone formation since the age of 4 years, was admitted as an emergency due to anuria for a half day on November 20, 1986. Kidney-ureter-bladder film showed that the urethra was obstructed by a stone, and emergent cystoscopy was performed to remove it. He is the product of consanguinous marriage, his parents being first cousins. There was no family history of renal stone. Laboratory investigations showed hypokalemic, hyperchloremic metabolic acidosis. The ammonium chloride loading test revealed inability to acidify the urine and a markedly decreased excretion of titrable hydrogen ion and ammonium ion in the urine. These results indicate that this is a case of Type I renal tubular acidosis. His 24-hour urinary excretion of oxalate and glyoxylate were also markedly increased. There were no underlying causes leading to the development of secondary hyperoxaluria. These results also establish the diagnosis of Type I primary hyperoxaluria. The patient then received regimens of Polycitra 1ml/kg/day and Vitamin B6 50mg/day for 4 months. However, urinary stone developed again in this patient 4 months later. To our knowledge, Type I primary hyperoxaluria in association with Type I renal tubular acidosis has not been previously reported.
 ...
PMID:Type I primary hyperoxaluria associated with type I renal tubular acidosis. 344 74

The authors analyse a case of acute renal failure in an old patient after a TUR of the prostate. The involved mechanism seems to be a toxicity of the glycine solution. In case of severe "TUR syndrome" with important resorption of glycine, the glycine could be catabolysed in oxalate, creating an hyperoxalemia and hyperoxaluria. The high blood level of oxalates can be responsible of acute renal failure and anuria. The treatment is simple: hemodialysis is able to eliminate quickly (in one session) the oxalates from the renal tubules and to restore the renal function. Prospective studies will give us an idea of the propitious conditions for this pathology and for the prevention.
 ...
PMID:[Acute renal insufficiency following endourethral surgery with glycine irrigation]. 620 87

The authors report a series of 130 children suffering from urinary lithiasis (essentially between the age of 4 to 6 years) and particularly in boys (2.5 to 1). There were 108 cases of reno-ureteric lithiasis as against 23 vesico-urethral. In 69 cases, pyelocalyceal lithiasis predominated. Thirty per cent of the children had bilateral lithiasis, and 19% of all cases of lithiasis were staghorn calculi. Presenting symptoms : haematuria, diffuse abdominal pain, anuria (6 cases), complete urinary retention (5 cases). Study of these cases failed to indicate whether obstruction of the upper urinary tract (14%) or infection (27%) was the cause or the effect of the lithiasis. Particularly notable were 8 cases of cystinuria (6%), 1 of glycinuria, 1 of hyperoxaluria and 7 of hypercalciuria. At least in Spain, lithiasis in children would appear to be essentially idiopathic. However, 40% of these cases of lithiasis were secondary to obstruction of the excretory tract and/or urinary infection. All types of entero-uroplasty were lithogenic (6 cases). 32% of the children had a proteus infection. Treatment : 14 children were treated medically as against 125 surgically. 70% are free of any recurrence. 7% have a residual lithiasis. The rarity of recurrences and the quality of the results obtained indicate that complete surgical treatment represents the essential feature of the treatment of urinary lithiasis in children.
 ...
PMID:[Urinary lithiasis in the child (author's transl)]. 720 14