Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson's disease in Chinese children.

BACKGROUND: Recent studies presented a contradictory approach for the investigation of pediatric patients with an isolated increase in alanine transaminase. While classical teaching advised for a thorough investigation, recent studies suggested the yield on further investigation was low and thus not necessary. Yet the approach to the same clinical problem may need to be different due to variable disease prevalence rates among different ethnic populations. For the population with a higher prevalence rate of genetic liver diseases like Wilson's disease, an abnormal liver function may be the first presenting feature for some patients. METHODS: We reviewed 10 Chinese children with Wilson's disease who were diagnosed at a presymptomatic stage because of an isolated persistent elevation of alanine transaminase. RESULTS: All 10 patients did not have overt symptoms of liver impairment or neurological deficit. They were picked up incidentally with an abnormal liver function test. All patients were started on treatment shortly after diagnosis, and they remained well and symptom-free on the latest follow-up. CONCLUSIONS: This case series illustrated that an isolated persistent elevation of alanine transaminase is an important clue to the early diagnosis of pre-symptomatic Wilson's disease. It is particularly relevant in the Asian population where the disease is more prevalent.

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

OBJECTIVE: Hyperglycolic hyperoxaluria is an important biochemical diagnostic hallmark for primary hyperoxaluria type 1 (PH1). 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 PH1. PATIENTS AND METHODS: We performed a comparative study on an anuric continuous ambulatory peritoneal dialysis (CAPD) patient whose PH1 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. RESULTS: All 6 patients were receiving four 2-L CAPD exchanges daily. The estimated daily glycolic acid output for the PH1 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). CONCLUSION: 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 PH1.

Follicular fluid and serum concentrations of myo-inositol in patients undergoing IVF: relationship with oocyte quality.

BACKGROUND: The follicular microenvironment is an important determinant of oocyte development. The aim of this study was to examine whether the myo-inositol (MI) content in human follicular fluid (FF) was associated with better oocyte quality. METHODS: A total of 53 patients treated with IVF was recruited to a prospective observational study. FF and serum samples collected were divided into two groups: group A consisted of FF associated with matured and fertilized oocytes, whilst group B was from follicles with immature and unfertilized oocytes. RESULTS: Patient's age, total ampoules of HMG used, days of stimulation, basal levels of FSH, estradiol (E(2)) levels on the day of HCG, and serum MI content were not significantly different between the two groups. FF volume and its MI content were significantly higher in group A compared with group B (P < 0.05). The levels of MI in FF were positively correlated with the amount of E(2) in their corresponding FF samples and also correlated with embryo quality. CONCLUSIONS: We propose that higher concentrations of MI and E(2) in human FF appear to play a role in follicular maturity and provide a marker of good quality oocytes.