Neonatal hemochromatosis: diagnostic work-up based on a series of 56 cases of fetal death and neonatal liver failure.

OBJECTIVE: To define an algorithm to improve diagnosis of neonatal hemochromatosis (NH) related to gestational alloimmune liver disease (GALD), which is diagnosed by immunohistochemistry demonstrating activated complement at hepatocytes (IDACH). STUDY DESIGN: We assessed 56 instances of fetal death or neonatal liver failure (NLF; 2006-2009), 29 (7 stillborns, 22 NLF) with NH, and 27 (5 stillborns, 22 NLF) without NH (non-NH). Immunohistochemistry was retrospectively performed in 21 cases. Cases were grouped as follows: (1) GALD as demonstrated by IDACH (n = 17); (2) indeterminate for GALD (n = 28); or (3) alternate diagnosis found (n = 11). We compared cases of immunohistochemically proven GALD with those with an alternate diagnosis. RESULTS: Of the 12 stillborns, 7 had NH because of GALD (NH-GALD), one was undeterminate, and 4 had alternate diagnoses (GALD excluded). Of the 22 newborns with NH, 6 had NH-GALD, one had mitochondrial respiratory chain disorder (MRCD), and 15 were indeterminate for GALD. Of 22 non-NH newborns, extrahepatic siderosis (EHS) was not assessed in 13 (3 GALD, 1 alternate diagnosis [MRCD] and 9 indeterminate GALD) and excluded in 9 (5 alternate diagnoses and 4 indeterminate GALD). The only clinical features found to be associated with GALD were intrafamilial recurrence, prematurity, and EHS. CONCLUSIONS: In unexplained fetal death or NLF, the diagnosis of subsets of NH requires tissue analysis (autopsy) to assess EHS. In patients with NH, if MRCD is ruled out, NH-GALD is likely. The rate of IDACH in the diagnosis of GALD in cases without NH requires further study.

Moving from bag to catheter for urine collection in non-toilet-trained children suspected of having urinary tract infection: a paired comparison of urine cultures.

OBJECTIVE: To compare, in the same children, urine culture results from bag- versus catheter-obtained specimens with catheter culture as the reference. STUDY DESIGN: A total of 192 non-toilet-trained children <3 years of age from 2 emergency departments were recruited for this prospective cross-sectional study. All had positive urinalysis results from bag-obtained specimens that were systematically checked with a catheter-obtained specimen before treatment. Results of comparison of urine cultures obtained with these 2 collecting methods are presented. RESULTS: A total of 7.5% of bag-obtained specimen positive cultures had false-positive results. Twenty-nine percent of bag-obtained specimen cultures with negative results were false negative. Altogether, bag-obtained specimens led to either a misdiagnosis or an impossible diagnosis in 40% of cases versus 5.7% when urethral catheterization was used. CONCLUSION: Every bag-obtained positive-result urinalysis should be confirmed with a more reliable method before therapy.