儿童先天代谢异常伴发的肥厚型心肌病

儿童先天代谢异常是导致肥厚型心肌病（HCM）的重要病因, 掌握每种疾病的特征性表现有助于正确的诊断及鉴别诊断。多数先天代谢异常伴发HCM属于常染色体隐性遗传,少数为常染色体显性遗传X连锁遗传方式,部分线粒体病呈母系遗传。常规心电图、超声心动图等心脏检查即可以为部分疾病的基础病因找到诊断线索。随着酶替代疗法等新的治疗方法的不断进步,加强心脏评估,恰当地针对原发病治疗,多学科协同合作将为越来越多的患者生存提供可能。     

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??Objective??To investigate the clinical features and risk factors of multidrug-resistant bloodstream infection in children with acute leukemia. Methods??The clinical data of 121 blood culture-positive patients with acute leukemia admitted from January 1??2013 to September 30??2018 to Department of Pediatrics??Zhujiang Hospital of Southern Medical University were analyzed retrospectively. Results??Of the 121 patients with acute leukemia infected with bacterial bloodstream??55 were in the multidrug-resistant??MDR?? group and 66 in the non-multidrug-resistant??non-MDR?? group. There were 31 gram-positive bacteria in the MDR group. The top three strains were coagulase-negative Staphylococci??Staphylococcus aureus and Streptococcus mutans. Escherichia coli was the main strain of gram-negative bacteria. Logistic analysis suggested that MDR bloodstream infection was more likely to occur in the patiens with AML??P??0.038??OR 2.505??95%CI 1.036—6.058?? and at induction chemotherapy stage??P??0.038??OR 2.226??95%CI 1.045—4.774??. Other high-risk factors included neutropenic dysplasia ??7 d before fever??P??0.003??OR 3.36??95%CI 1.520—7.428????hemoglobin ??70 g/L??P??0.122??OR 1.897??95%CI 0.842—4.274????and platelet??20 g/L??P??0.005??OR 2.995??95%CI 1.388—6.464??. The fever duration and antibiotic course in the MDR group were longer than those in the non-MDR group??and the procalcitoni and C-reactive protein were higher in the MDR group. The empirical treatment of the MDR group was less effective??and the transfer rate for ICU and mortality rate were higher. Conclusion??AML??induction chemotherapy??neutrophil deficiency time before fever ??7 days ??hemoglobin??70 g/L and platelet??20×109/L are risk factors for MDR bloodstream infection. The inflammation response is severe MDR bloodstream infections??which may result in longer anti-infective treatments and a worse prognosis.     

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??Objective??To analyze the clinical and gene mutation characteristics of Duchenne progressive muscular dystrophy ??DMD????summarize the gene mutation hotspots in 97 cases and to explore the correlation between clinical manifestations and genotype. Methods??Totally 97 patients with DMD diagnosed by genetic examination from January 2014 to 2018 were collected and analyzed. The clinical manifestations??serum analyses and gene mutation results were analyzed. Results??The main clinical manifestations of 97 patients??96 boys?? were feeding difficulties?? increased muscle enzyme and limb weakness. Creatine kinase??CK???? lactate dehydrogenase??LDH?? and aspartate aminotransferase??AST?? muscle enzymes were significantly increased. By combining deep-sequencing technologies??the large deletions of DMD gene mutation was in 62 cases??63.92%????there were 11 cases??11.34%?? of large duplication mutation??and 24 cases??24.74%?? of point mutation. All of the mutations could occur in any position in the DMD gene??but there were two hot spots??45 cases were located in the central region gene exon 45??55??72.58% ????12 cases of deletion mutation were located in 5’exon end exon 2??19 area??19.35%??. Conclusion??The main clinical manifestations of the DMD children are feeding difficulty??increased muscle enzyme and limb weakness. The patients with significantly increased muscle enzyme should receive a timely defection of DMD gene.     

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??Objective??To detect the level of fecal primary and secondary bile acids in infants with infantile cholestatic hepatopathy??ICH??and analyze its clinical value. Methods??Thirty infants with ICH were enrolled in this study??who were diagnosed with infantile cholestatic hepatopathy. Thirty infants with good health condition were enrolled as the healthy control group. The fecal samples were collected respectively in the preparatory treatment phase and treatment phase from infants with ICH and from the healthy infants. Bile acids were extracted from infants’ feces and were quantitatively analyzed by liquid chromatography-mass spectroscopy. Results??Among the fecal primary bile acids??the level of cholic acid??chenodeoxycholic and glycochenodeoxycholic acid both in the ICH preparatory treatment group and ICH treatment group was significantly lower than that in the healthy control group??P??0.016??.The level of fecal cholic acid and chenodeoxycholic acid of ICH treatment group was higher than in the ICH preparatory treatment group??P??0.016??. Among the fecal secondary bile acids??the level of lithocholic acid both in the ICH preparatory treatment group and ICH treatment group was significantly lower than that in the healthy control group??P??0.016????and the level of ursodeoxycholic acid in the ICH preparatory treatment group was lower than that in the ICH treatment group and healthy control group??P??0.016??. Conclusion??In infants with ICH, the changes of fecal primary bile acids and fecal secondary bile acids have their own characteristics at the early stage of treatment, which may be caused by the short-term treatment, the prognosis of the disease itself and the changes of intestinal function, including intestinal bacteria. Clinical attention should be paid to these changes.