Diagnosis of primary hyperoxaluria type 1 by determination of peritoneal dialysate glycolic acid using standard organic-acids analysis method.

[primary hyperoxaluria type 1]

Hyperglycolic hyperoxaluria is an important biochemical diagnostic hallmark for primary hyperoxaluria type 1 (PH 1 ). Biochemical work-up on urinary specimens becomes impossible after the development end-stage renal failure and anuria . We studied the diagnostic value of determining glycolic acid content in peritoneal dialysate effluent in PH 1 .We performed a comparative study on an anuric continuous ambulatory peritoneal dialysis (CAPD ) patient whose PH 1 was confirmed by genetic study and on 5 anuric CAPD controls . Specimens were taken from each bag of peritoneal dialysate effluent over a 24 -hour period , and the corresponding drainage volume was noted . The specimens were then processed using standard procedures for organic-acid analysis . They underwent ethyl acetate extraction , followed by semiquantitative analysis of organic acids by gas chromatography mass spectrometry (GCMS ). The daily output of glycolic acid in peritoneal dialysate for each individual was then estimated .All 6 patients were receiving four 2 -L CAPD exchanges daily . The estimated daily glycolic acid output for the PH 1 patient was 48 .3 micromol daily . The mean glycolic acid output for the 5 controls was estimated to be much lower at 19 .6 micromol daily (range : 15 .1 - 27 .5 micromol daily ).Standard organic-acid analysis for glycolic acid in peritoneal dialysate could be a useful initial screening tool before invasive or sophisticated testing is done in CAPD patients with suspected PH 1 .

Diseases
Validation

Diseases presenting "end-stage renal failure" symptom

familial mediterranean fever

homocystinuria without methylmalonic aciduria

primary hyperoxaluria type 1

This symptom has already been validated