Korean Journal of Pediatrics最新文献

{"title":"Prevalence of obesity and overweight in Iranian children aged less than 5 years: a systematic review and meta-analysis.","authors":"Kamyar Mansori,&nbsp;Sorour Khateri,&nbsp;Yousef Moradi,&nbsp;Zaher Khazaei,&nbsp;Hossein Mirzaei,&nbsp;Shiva Mansouri Hanis,&nbsp;Mehran Asadi Aliabadi,&nbsp;Mehdi Ranjbaran,&nbsp;Fatemeh Varse,&nbsp;Serveh Parang","doi":"10.3345/kjp.2018.07255","DOIUrl":"https://doi.org/10.3345/kjp.2018.07255","url":null,"abstract":"<p><strong>Purpose: </strong>The present study aimed to determine the prevalence of childhood obesity and overweight in Iranian children under 5 years of age using a systematic review and meta-analysis.</p><p><strong>Methods: </strong>We searched MEDLINE (PubMed), Web of Science, Google Scholar, Scopus, CINHAL, and the Iranian databases, including Scientific Information Database (www.sid.ir), Iranian Research Institute for Information Science and Technology (Irandoc.ac.ir), Iranmedex (www.iranmedex.com), and Magiran (www.magiran.com), for all articles published between January 1989 and August 2017. Sources of heterogeneity were determined using subgroup analysis and meta-regression.</p><p><strong>Results: </strong>Six articles were ultimately included in the meta-analysis to estimate the pooled prevalence, based on which the prevalence of obesity and overweight were estimated to be 8% (95% confidence interval [CI], 6%-10%) and 9% (95% CI, 7%-11%), respectively. The results of the subgroup analysis showed that the prevalence of obesity in boys and girls was 9% (95% CI, 6%-13%) and 7% (95% CI, 4-10%), respectively, and the prevalence of overweight in boys and girls was 10% (95% CI, 5%-15%) and 9% (95% CI, 5%-13%), respectively.</p><p><strong>Conclusion: </strong>Despite high heterogeneity among the results of the articles included in the meta-analysis, the prevalence of obesity and overweight is higher in Iranian children under 5 years of age. Therefore, parents and the health system must pay more attention to the lifestyle, nutritional habits, and physical activity of these children.</p>","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 6","pages":"206-212"},"PeriodicalIF":0.0,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/49/9a/kjp-2018-07255.PMC6584232.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37410502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum: Cardiac function associated with home ventilator care in Duchenne muscular dystrophy.","authors":"Sangheun Lee,&nbsp;Heeyoung Lee,&nbsp;Lucy Youngmin Eun,&nbsp;Seung-Woong Gang","doi":"10.3345/kjp.2018.61.2.59.e1","DOIUrl":"https://doi.org/10.3345/kjp.2018.61.2.59.e1","url":null,"abstract":"<p><p></p>","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 6","pages":"244"},"PeriodicalIF":0.0,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9e/60/kjp-2018-61-2-59-e1.PMC6584240.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37063069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.","authors":"Min-Sun Kim,&nbsp;Ari Song,&nbsp;Minji Im,&nbsp;June Huh,&nbsp;I-Seok Kang,&nbsp;Jinyoung Song,&nbsp;Aram Yang,&nbsp;Jinsup Kim,&nbsp;Eun-Kyung Kwon,&nbsp;Eu-Jin Choi,&nbsp;Sun-Ju Han,&nbsp;Hyung-Doo Park,&nbsp;Sung Yoon Cho,&nbsp;Dong-Kyu Jin","doi":"10.3345/kjp.2018.06968","DOIUrl":"https://doi.org/10.3345/kjp.2018.06968","url":null,"abstract":"<p><strong>Purpose: </strong>Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alphaglucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center.</p><p><strong>Methods: </strong>The medical records of 5 Korean patients (2 male, 3 female patients) diagnosed with PD between 2002 and 2013 at Samsung Medical Center in Seoul, Republic of Korea were retrospectively reviewed for data, including clinical and genetic characteristics at diagnosis and clinical course after ERT.</p><p><strong>Results: </strong>Common initial symptoms included hypotonia, cyanosis, and tachycardia in patients with IOPD and limb girdle weakness in patients with LOPD. Electrocardiography at diagnosis revealed hypertrophic cardiomyopathy in all patients with IOPD who showed a stable disease course during a median follow-up period of 10 years. Patients with LOPD showed improved hepatomegaly and liver transaminase level after ERT.</p><p><strong>Conclusion: </strong>As ERT is effective for treatment of PD, early identification of this disease is very important. Thus, patients with IOPD should be considered candidates for clinical trials of new drugs in the future.</p>","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 6","pages":"224-234"},"PeriodicalIF":0.0,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/85/f4/kjp-2018-06968.PMC6584236.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36606264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Change of coronary artery indices according to coronary dominance pattern in early childhood.","authors":"Yoon Jin Lee,&nbsp;Kyoung Soo Park,&nbsp;Hong Ryang Kil","doi":"10.3345/kjp.2018.07129","DOIUrl":"https://doi.org/10.3345/kjp.2018.07129","url":null,"abstract":"<p><strong>Purpose: </strong>Coronary arterial lesion assessment in children can be difficult, depending on the coronary dominance pattern. Although it is easier to determine coronary dominance with echocardiography in children than in adults, it is still difficult. This study aimed to examine the coronary dominance pattern according to the objective coronary artery (CA) indices.</p><p><strong>Methods: </strong>The CA diameter, aortic valve annulus, and abdominal aorta of 69 children without any cardiovascular disease were measured with cross-sectional echocardiography at Chungnam National University Hospital. To evaluate the coronary dominance pattern, echocardiography was primarily used; additionally, coronary computed tomographic angiography or coronary angiography (CAG). Coronary dominance was determined according to the status of the CA that gives rise to the posterior descending artery.</p><p><strong>Results: </strong>The mean age was 4.02±2.78 years, and the mean body surface area (BSA) was 0.70±0.22 m2 . Right dominance was present in 78% and left in 22% of the subjects. In those with left dominance, the CA to aortic valve annulus diameter ratio was 0.125±0.021 in the right coronary artery (RCA) and 0.255±0.032 in the left coronary artery (LCA). In those with right dominance, the corresponding ratio was 0.168±0.028 in the RCA and 0.216±0.030 in the LCA (P<0.05). Significant differences were also found in the diametric ratios of the CA to BSA and abdominal aorta (P<0.05).</p><p><strong>Conclusion: </strong>The CA indices showed significant difference according to the coronary dominance pattern in early childhood. It is possible to indirectly determine the coronary dominance pattern with the CA indices in children using echocardiography. The accuracy of coronary artery lesion diagnosis can be improved by taking coronary dominance into account.</p>","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 6","pages":"240-243"},"PeriodicalIF":0.0,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/38/1c/kjp-2018-07129.PMC6584238.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36754875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Validity of the Korean Developmental Screening Test for very-low-birth-weight infants.","authors":"Chae Young Kim,&nbsp;Euiseok Jung,&nbsp;Byong Sop Lee,&nbsp;Ki-Soo Kim,&nbsp;Ellen Ai-Rhan Kim","doi":"10.3345/kjp.2018.07381","DOIUrl":"https://doi.org/10.3345/kjp.2018.07381","url":null,"abstract":"<p><strong>Purpose: </strong>The importance of the neurodevelopmental outcomes of very-low-birth-weight (VLBW) infants has been emphasized as their mortality rate has markedly improved. This study aimed to assess the validity of the Korean Developmental Screening Test (K-DST), a developmental screening tool approved by the Korean Society of Pediatrics, for the timely diagnosis of neurodevelopmental delay in VLBW infants.</p><p><strong>Methods: </strong>Subjects included VLBW infants enrolled in the Korean Neonatal Network database between January 2012 and December 2014. The collected data were analyzed for sensitivity, specificity, positive predictive value, and negative predictive value (NPV) in the K-DST compared to those in the Bayley Scales of Infant Development-II for VLBW infants.</p><p><strong>Results: </strong>A total of 173 patients were enrolled. Their mean gestational age and mean birth weight were 27.5±2.8 weeks and 980.5±272.1 g, respectively. The frequency of failed psychomotor developmental index (PDI) <85 was similar to that in at least one domain of K-DST <1 standard deviation. Failure in more than one K-DST domain compared with a mental developmental index (MDI) <85 showed a sensitivity and NPV of 73.2% and 75.0%, respectively. Failure in more than one K-DST domain compared with PDI <85 showed a sensitivity and NPV of 60.3% and 71.6%, respectively. Each K-DST domain had a stronger correlation with predicting a failing MDI <85 than a failing PDI <85 (P<0.05).</p><p><strong>Conclusion: </strong>K-DST could be a useful screening tool for predicting mental developmental delay in VLBW infants and referring them for neurodevelopmental assessments.</p>","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 5","pages":"187-192"},"PeriodicalIF":0.0,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/37/8b/kjp-2018-07381.PMC6528064.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37164809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of Lactobacillus reuteri DSM 17938 for the absorption of iron preparations in children with iron deficiency anemia.","authors":"Jeanette Manoppo,&nbsp;Hilda Tasiringan,&nbsp;Audrey Wahani,&nbsp;Adrian Umboh,&nbsp;Max Mantik","doi":"10.3345/kjp.2018.07024","DOIUrl":"https://doi.org/10.3345/kjp.2018.07024","url":null,"abstract":"<p><strong>Purpose: </strong>To determine whether Lactobacillus reuteri DSM 17938 plays a role in absorption of iron preparations given to children with iron deficiency anemia (IDA).</p><p><strong>Methods: </strong>We performed a quasi-experimental study involving pre- and postintervention tests using a control group in North Sulawesi province, Indonesia, between July and September 2017. We conducted a single-blind controlled trial that included primary school children who were diagnosed with IDA based on reticulocyte hemoglobin equivalent (Ret-He) levels <27.8 pg/L.</p><p><strong>Results: </strong>A total of 66 children were randomized into 2 groups. Thirty-four children received iron preparations with the addition of L. reuteri DSM 17938 (group 1), whereas the other 32 received iron preparations alone (group 2). The baseline Ret-He levels before intervention were similar in both groups. After 14 days of intervention, mean Ret-He level in group 1 changed from 24.43±1.64 to 28.21±1.72 pg/ L (P=0.000). Mean Ret-He level in group 2 changed from 24.31±1.42 to 27.03±2.14 pg/L (P=0.000). Statistical analysis showed a significant increase in Ret-He levels in both groups; Ret-He levels were significantly higher in the experimental group than in the control group (P<0.05).</p><p><strong>Conclusion: </strong>Children with IDA receiving iron preparations with L. reuteri DSM 17938 for 14 days show higher Ret-He levels than those receiving iron preparations alone.</p>","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 5","pages":"173-178"},"PeriodicalIF":0.0,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e6/de/kjp-2018-07024.PMC6528058.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37254448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surfactant preparations for preterm infants with respiratory distress syndrome: past, present, and future.","authors":"Ga Won Jeon","doi":"10.3345/kjp.2018.07185","DOIUrl":"https://doi.org/10.3345/kjp.2018.07185","url":null,"abstract":"<p><p>Following the first successful trial of surfactant replacement therapy for preterm infants with respiratory distress syndrome (RDS) by Fujiwara in 1980, several animal-derived natural surfactants and synthetic surfactants have been developed. Synthetic surfactants were designed to overcome limitations of natural surfactants such as cost, immune reactions, and infections elicited by animal proteins contained in natural surfactants. However, first-generation synthetic surfactants that are protein-free have failed to prove their superiority over natural surfactants because they lack surfactant protein (SP). Lucinactant, a second-generation synthetic surfactant containing the SP-B analog, was better or at least as effective as the natural surfactant, suggesting that lucinactant could act an alternative to natural surfactants. Lucinactant was approved by the U. S. Food and Drug Administration in March 2012 as the fifth surfactant to treat neonatal RDS. CHF5633, a second-generation synthetic surfactant containing SP-B and SP-C analogs, was effective and safe in a human multicenter cohort study for preterm infants. Many comparative studies of natural surfactants used worldwide have reported different efficacies for different preparations. However, these differences are believed to due to site variations, not actual differences. The more important thing than the composition of the surfactant in improving outcome is the timing and mode of administration of the surfactant. Novel synthetic surfactants containing synthetic phospholipid incorporated with SP-B and SP-C analogs will potentially represent alternatives to natural surfactants in the future, while improvement of treatment modalities with less-invasive or noninvasive methods of surfactant administration will be the most important task to be resolved.</p>","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 5","pages":"155-161"},"PeriodicalIF":0.0,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fe/d8/kjp-2018-07185.PMC6528062.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36545736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and associates of obesity and overweight among school-age children in a rural community of Thailand.","authors":"Teechaya Nonboonyawat,&nbsp;Wuttipat Pusanasuwannasri,&nbsp;Nattanon Chanrat,&nbsp;Natta Wongthanavimok,&nbsp;Danutanut Tubngern,&nbsp;Piengkwan Panutrakul,&nbsp;Mathirut Mungthin,&nbsp;Thirapa Nivesvivat,&nbsp;Panadda Hatthachote,&nbsp;Ram Rangsin,&nbsp;Phunlerd Piyaraj","doi":"10.3345/kjp.2018.06499","DOIUrl":"https://doi.org/10.3345/kjp.2018.06499","url":null,"abstract":"<p><strong>Purpose: </strong>Information about overweight and obesity among students in rural areas of Thailand is limited. Therefore, we aimed to determine overweight and obesity prevalences and associated factors among school-aged children in a rural community of Thailand.</p><p><strong>Methods: </strong>We selected 9 public schools through cluster sampling in 2 provinces located in central Thailand in 2016. Anthropometric measurements were measured using standard techniques, classified as overweight (>1 standard deviation [SD]) and obese (>2 SD) with respect to their age and sex using 2007 World Health Organization reference charts. Standardized questionnaires on risk factors were sent to parents to be completed together with their child.</p><p><strong>Results: </strong>Among 1,749 students, 8.98% had overweight and 7.26% had obesity. Mean age (range) was 11.5 years (5-18 years). Independent factors associated with overweight and obesity included primary school student (reference as secondary school) (adjusted odds ratio [aOR], 2.25; 95% confidence interval [CI], 1.24-4.08; P=0.07), mother's body mass index (aOR, 1.07; 95% CI, 1.02-1.12; P=0.001), selfemployed father (aOR, 1.99; 95% CI, 1.12-3.55; P=0.018), number of siblings (aOR, 0.61; 95% CI, 0.47-0.81; P=0.001), having sibling(s) with obesity (aOR, 1.82; 95% CI, 1.20-2.77; P=0.005), more than one (aOR, 7.16; 95% CI, 2.40-21.32; P<0.001), consuming 2-3 ladles of rice/meal (aOR, 2.14; 95% CI, 1.38-3.32; P=0.001), consuming >3 ladles of rice/meal (aOR, 2.69; 95% CI, 1.11-6.46; P= 0.27), watching <2 hours of television/day (aOR, 2.18; 95% CI, 1.19-4.01; P=0.012), and watching >2 hours of television/day (aOR, 2.60; 95% CI, 1.36-4.96; P=0.004).</p><p><strong>Conclusion: </strong>Many sociodemographic, dietary, and behavioral factors were related to overweight and obesity among school-aged children not only in urban but also rural communities of Thailand.</p>","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 5","pages":"179-186"},"PeriodicalIF":0.0,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3345/kjp.2018.06499","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36545734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between vitamin D level at birth and respiratory morbidities in very-low-birth-weight infants.","authors":"Ian Kim,&nbsp;Sung Shin Kim,&nbsp;Jee In Song,&nbsp;Seock Hwa Yoon,&nbsp;Ga Young Park,&nbsp;Yong-Wha Lee","doi":"10.3345/kjp.2018.06632","DOIUrl":"https://doi.org/10.3345/kjp.2018.06632","url":null,"abstract":"Purpose This study aimed to evaluate vitamin D status at birth in very-low-birth-weight infants (VLBWIs: <1,500 g) and to determine the association between vitamin D level and respiratory morbidity. Methods A retrospective study was conducted at Soonchunhyang University Bucheon Hospital between November 2013 and November 2017. We collected blood samples and data on respiratory morbidity from 230 VLBWIs on the first day of life. Patients who were transferred to other hospitals (n=19), died before 36 weeks of gestational age (n=18), or whose blood samples were not collected immediately after birth (n=5) were excluded. Finally, 188 patients were enrolled. VLBWIs with different vitamin D levels were compared with respect to demographic features, maternal diseases, respiratory morbidities, and other neonatal diseases. Results The mean serum vitamin D level, as measured by 25-hydroxyvitamin D (25(OH)D), was 13.4± 9.3 ng/mL. The incidence of vitamin D deficiency (<20 ng/mL) was 79.8%, and 44.1% of preterm infants had severe vitamin D deficiency (<10 ng/mL). Logistic analysis shows that a low serum 25(OH)D level (<20 ng/mL) was a risk factor for respiratory distress syndrome (odds ratio [OR], 4.32; P=0.010) and bronchopulmonary dysplasia (OR, 4.11; P=0.035). Conclusion The results showed that 79.8% of preterm infants in this study had vitamin D deficiency at birth. Low vitamin D status was associated with respiratory morbidity, but the exact mechanism was unknown. Additional studies on the association between vitamin D level and neonatal morbidity are required.","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 5","pages":"166-172"},"PeriodicalIF":0.0,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3345/kjp.2018.06632","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36606262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea.","authors":"Kyoung Hee Han,&nbsp;Jong Eun Park,&nbsp;Chang-Seok Ki","doi":"10.3345/kjp.2018.06772","DOIUrl":"https://doi.org/10.3345/kjp.2018.06772","url":null,"abstract":"<p><p>Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal disease. There are 3 known genetic forms of ATS, namely X-linked ATS, autosomal recessive ATS, and autosomal dominant ATS. About 80% of patients with ATS have X-linked ATS, which is caused by mutations in the type IV collagen α5 chain gene, COL4A5. Although an 80% mutation detection rate is observed in men with X-linked ATS, some difficulties do exist in the genetic diagnosis of ATS. Most mutations are point mutations without hotspots in the COL4A3, COL4A4, and COL4A5 genes. Further, there are insufficient data on the detection of COL4A3 and COL4A4 mutations for their comparison between patients with autosomal recessive or dominant ATS. Therefore, diagnosis of ATS in female patients with no apparent family history can be challenging. Therefore, in this study, we used whole-exome sequencing (WES) to identify mutations in type IV collagen in 2 girls with glomerular basement membrane structural changes suspected to be associated with ATS; these patients had no relevant family history. Our results revealed de novo c.4688G>A (p.Arg1563Gln) and c.2714G>A (p.Gly905Asp) mutations in COL4A5. Therefore, we suggest that WES is an effective approach to obtain genetic information in ATS, particularly in female patients without a relevant family history, to detect unexpected DNA variations.</p>","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 5","pages":"193-197"},"PeriodicalIF":0.0,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/88/e8/kjp-2018-06772.PMC6528060.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36766396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}