Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome / 소아과

Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients with Lynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with Lynch syndrome who have a compound heterozygous or homozygous MMR gene mutation. We report a case of CRC in a 13-year-old patient with Lynch syndrome and congenital heart disease. This patient had a heterozygous mutation in MLH1 (an MMR gene), but no compound MMR gene defects, and a K-RAS somatic mutation in the cancer cells.

Febrile Urinary Tract Infections Caused by Community-Acquired Extended-Spectrum beta-Lactamase-Producing and-Nonproducing Bacteria: A Comparative Study

PURPOSE: The purpose of this study was to investigate the clinical characteristics and outcome of febrile urinary tract infections (UTIs) caused by community-acquired extended-spectrum beta-lactamase (CA-ESBL)-producing and -nonproducing bacteria. METHODS: We analyzed febrile UTIs in children hospitalized at Gachon University Gil Medical Center from January 2011 to December 2013 through retrospective data collection from their medical records. RESULTS: Among pathogens causing 374 episodes of UTIs, the proportion of ESBL-producing bacteria was 13.1% (49/374). The proportion of ESBL-producing Escherichia coli and Klebsiella spp. was 13.6% (48/354) and 5.0% (1/20), respectively. There was no significant difference between the CA-ESBL and CA non-ESBL groups in duration of fever (4.2+/-2.7 vs.3.7+/-2.1 days, P=0.10) and bacterial eradication rate with empirical antibiotics (100% vs. 100%). The risk of cortical defects on renal scan significantly depended on existence of vesicoureteral reflux rather than ESBL production of pathogen. CONCLUSIONS: There was no significant difference between the CA-ESBL and CA non-ESBL groups in renal cortical defects and clinical outcome. Careful choice of antibiotics is important for treatment of community-acquired UTI in children.