Search

BACKGROUND In pediatric patients with cholestasis of unknown cause, inborn errors of bile acid (BA) synthesis (IEBAS) may be considered. For the initial screening for IEBAS, clarification of the urine BA profile is essential. The transportation of urine in a frozen state via air delivery, however, is laborious and costly. This study assessed the feasibility of using dried urine spots (DUS) to establish a more convenient and affordable method of IEBAS screening. METHODS We created DUS using urine samples from patients with 3β-hydroxy-Δ5-C27-steroid dehydrogenase/isomerase deficiency (3β-HSD) and Δ4-3-oxo-steroid 5β-reductase deficiency as standard preparations. We started accepting DUS specimens by regular mail. RESULTS The ratio of unusual to usual BA is essential for the initial detection of IEBAS, and the recovery rates of abnormal BA were acceptable. The recovery rate of Δ4-BA on day 28 decreased to 31.8% at 25°C, and to 19.6% at 37°C. Therefore, the sending of DUS should be avoided under conditions of high temperature. Of a total of 49 children with cholestasis, eight new patients were diagnosed with IEBAS using this screening method. CONCLUSION The mailing screening system is expected to facilitate the shipment, from regions outside of Japan, of samples for IEBAS screening.

Serum electrolytes and urine analysis results were retrospectively reviewed in children with either dengue fever (DF) or dengue hemorrhagic fever (DHF). Children who had positive serology for dengue infection and serum electrolytes determined before starting intravenous fluid were included in the study. During the years 2004-2007, 73 DF patients, age 9.29 +/- 3.62 years, and 77 DHF patients, age 10.04 +/- 3.64 years were enrolled in the study. The patients were admitted to the hospital on average on days 4.12 +/- 1.1 and 4.25 +/- 1.4 of febrile illness for DF and DHF, respectively. The prevalence of hyponatremia in patients with DF was 61% and DHF was 72% (p = 0.149). The mean serum sodium levels in patients with DF and DHF were 133.5 +/- 3.52 and 133.5 +/- 3.20 mEq/l (p = 0.938), respectively. The prevalence of hyponatremia in patients with mild (grade I), moderate (grade II) and severe (grade III-IV) DHF were 70, 77, and 78% (p = 0.729), respectively, and the mean serum sodium levels were 134.1 +/- 3.05, 132.9 +/- 3.33, and 132.5 +/- 3.28 (p = 0.189), respectively. The prevalence of hypokalemia in patients with DF was 14% and 17% in patients with DHF (p = 0.588). A high urine specific gravity reflecting dehydration was found in 63% of patients with DF and 60% of patients with DHF (p = 0.77). The prevalences of hematuria in patients with DF and DHF were 18% and 27% (p = 0.182), respectively and proteinuria were 15% and 27% (p = 0.072), respectively. The prevalences of hematuria and proteinuria were not different among patients with mild, moderate and severe DHF. No patients had gross hematuria or developed acute renal failure requiring dialysis. Mild hyponatremia is a common electrolyte disturbance and renal involvement is mild in patients with DF and DHF.