Urinary tract infections (UTI) are one of the most common and serious bacterial infections encountered by paediatricians and primary care physicians. Although the diagnosis and management of UTI appear simplistic, they remain among the most contentious issues in paediatrics. In part, UTI controversies stem from the absence of classic clinical symptoms, inappropriate urine specimen collection, modified urinary tract imaging recommendations, and diverse treatment and prevention strategies. Recently published guidelines and large clinical trials have attempted to clarify UTI diagnostic and management strategies. In this manuscript, we review the diagnosis and management of acute and recurrent UTI in the paediatric and adolescent populations.
This series represents a subset of paediatric TIN patients in whom there was a clinical indication for a renal biopsy, hence presenting with more severe disease than previously reported. This group were more likely to have no identifiable underlying cause and an increased requirement for corticosteroid treatment. Furthermore, more than half of the cases developed chronic kidney disease (CKD) with impaired kidney function.
Biallelic FAM20A mutations cause two conditions where Amelogenesis Imperfecta (AI) is the presenting feature: Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome; and Enamel Renal Syndrome. A distinctive oral phenotype is shared in both conditions. On Sanger sequencing of FAM20A in cases with that phenotype, we identified two probands with single, likely pathogenic heterozygous mutations. Given the recessive inheritance pattern seen in all previous FAM20A mutation‐positive families and the potential for renal disease, further screening was carried out to look for a second pathogenic allele. Reverse transcriptase‐PCR on cDNA was used to determine transcript levels. CNVseq was used to screen for genomic insertions and deletions. In one family, FAM20A
cDNA screening revealed only a single mutated FAM20A allele with the wild‐type allele not transcribed. In the second family, CNV detection by whole genome sequencing (CNVseq) revealed a heterozygous 54.7 kb duplication encompassing exons 1 to 4 of FAM20A. This study confirms the link between biallelic FAM20A mutations and the characteristic oral phenotype. It highlights for the first time examples of FAM20A mutations missed by the most commonly used mutation screening techniques. This information informed renal assessment and ongoing clinical care.
An acute obstructive nephropathy due to precipitation of urinary glycoprotein-contrast complexes in the renal tubules has been postulated to explain the episodes of renal failure occasionally seen following intravascular contrast medium administration. In an in vitro study we were unable to produce any precipitation of contrast-glycoprotein complexes over a wide range of concentrations, temperatures and pH values in urine with any urographic contrast agent, conventional or new. Meglumine ioglycamide (Biligram: Schering) alone, the strongly protein-binding agent, exhibited the phenomenon, and only in high concentration. It is concluded that such a mechanism is unlikely to play a role in contrast medium nephrotoxicity, which therefore remains unexplained.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.