Turkish Journal of Pediatrics最新文献

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Periostin and IFN-γ levels in serum and nasopharyngeal aspirate in infants with viral-induced wheezing - 2 year follow-up. 新生儿病毒性喘息患儿血清和鼻咽吸入物中的骨膜素和IFN-γ水平- 2年随访
IF 0.7 4区 医学
Turkish Journal of Pediatrics Pub Date : 2022-01-01 DOI: 10.24953/turkjped.2022.465
Sirma Mileva, Ekaterina Ivanova-Todorova, Kalina Tumagelova-Yuzeir, Trifonova T Ivelina, Neli S Korsun, Venelin A Alexiev
{"title":"Periostin and IFN-γ levels in serum and nasopharyngeal aspirate in infants with viral-induced wheezing - 2 year follow-up.","authors":"Sirma Mileva,&nbsp;Ekaterina Ivanova-Todorova,&nbsp;Kalina Tumagelova-Yuzeir,&nbsp;Trifonova T Ivelina,&nbsp;Neli S Korsun,&nbsp;Venelin A Alexiev","doi":"10.24953/turkjped.2022.465","DOIUrl":"https://doi.org/10.24953/turkjped.2022.465","url":null,"abstract":"<p><strong>Background: </strong>The present study assesses the immune response in children with viral-induced wheezing by examining the two factors-interferon-gamma (IFN-γ) and periostin in serum and nasopharyngeal aspirate (NPA). The aim was to find a pattern with the severity and frequency of wheezing episodes.</p><p><strong>Methods: </strong>Sixty-nine infants (40 boys and 29 girls), with a mean age of 11.4±6 (2 - 23) months, hospitalized with a first or recurrent episode of bronchial obstruction were enrolled in this study. The serum and NPA concentrations of IFN-γ and periostin were assessed by ELISA methodology. Fifty of the children (72%) were followed for 2 years.</p><p><strong>Results: </strong>We detected lower NPA IFN-γ production in boys, infants with atopic status, family history of asthma, and respiratory syncytial virus infection. Recurrent wheezing in children was associated with a twice lower concentration of IFN-γ in NPA compared to those with the first episode (7.1 vs. 14.8 pg/ml, p=0.05). Higher serum periostin level was established in children over 12 mo in the group of recurrent wheezers with persistent manifestations compared to those without symptoms during the follow-up (410.5 vs. 269.7 ng/ml, p = 0.03). Multivariate logistical regression model assessed high level of serum periostin, male gender, atopy, family history of asthma, and severity of the attack as significant risk factors for persistent compared to intermittent wheezing (r < sup > 2 < /sup > = 0.87, p = 0.04).</p><p><strong>Conclusions: </strong>Our results demonstrated that recurrent viral-induced wheezing is associated with decreased IFN-γ production and increased periostin response and their correlation with severity and persistence of symptoms were the main outcome measures.</p>","PeriodicalId":49409,"journal":{"name":"Turkish Journal of Pediatrics","volume":"64 6","pages":"1021-1030"},"PeriodicalIF":0.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10519213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant. 一种与早产儿单核细胞血小板减少症相关的新型Mecom基因突变。
IF 0.7 4区 医学
Turkish Journal of Pediatrics Pub Date : 2022-01-01 DOI: 10.24953/turkjped.2021.4855
Burak Deliloğlu, Özlem Tüfekçi, Funda Tüzün, Ayça Aykut, Emine İpek Ceylan, Asude Durmaz, Şebnem Yılmaz, Nuray Duman, Hasan Özkan, Hale Ören
{"title":"A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant.","authors":"Burak Deliloğlu,&nbsp;Özlem Tüfekçi,&nbsp;Funda Tüzün,&nbsp;Ayça Aykut,&nbsp;Emine İpek Ceylan,&nbsp;Asude Durmaz,&nbsp;Şebnem Yılmaz,&nbsp;Nuray Duman,&nbsp;Hasan Özkan,&nbsp;Hale Ören","doi":"10.24953/turkjped.2021.4855","DOIUrl":"https://doi.org/10.24953/turkjped.2021.4855","url":null,"abstract":"<p><strong>Background: </strong>Hereditary bone marrow failure syndromes are a category of biologically different syndromes that can cause cytopenia in at least one hematopoietic cell lineage.</p><p><strong>Case: </strong>We present a 29-week-old male infant who had a low Apgar Score, advanced delivery room resuscitation, widespread petechial rash, and ecchymoses at birth, without any dysmorphic features. Initial laboratory tests revealed bicytopenia (platelet count 7x10 3 /uL, hemoglobin of 3.9 g/dL, neutrophil 2.0x103 /uL) with findings of disseminated intravasculer coagulation (DIC). Imaging studies demonstrated accompanying left-sided congenital pulmonary airway malformation. On the second postnatal week pancytopenia occurred and the bone marrow findings were consistent with congenital amegakaryocytic thrombocytopenia. Further evaluations for differential diagnosis of pancitopenia were performed and the results of congenital viral infections, metabolic and immunologic tests were negative. While supportive treatments were in progress, haploidentical bone marrow transplantation (BMT) was performed from the father at 84th day due to unavailability of HLA-matched relative or nonrelative donor. Whole exome sequencing revealed a novel heterozygous frameshift variation (c.1242dupT [p. Thr538fs]) in exon 8 of the MECOM gene and validated by Sanger sequencing. No variation was detected in the parents genetic analysis.</p><p><strong>Conclusions: </strong>In this report, we present a patient with congenital bone marrow failure successfully treated with haploidentic BMT and describe a novel, de novo pathogenic variant in MECOM gene.</p>","PeriodicalId":49409,"journal":{"name":"Turkish Journal of Pediatrics","volume":"64 4","pages":"736-740"},"PeriodicalIF":0.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33455251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Imaging manifestations of neonatal necrotizing enterocolitis to predict timing of surgery. 新生儿坏死性小肠结肠炎的影像学表现预测手术时机。
IF 0.7 4区 医学
Turkish Journal of Pediatrics Pub Date : 2022-01-01 DOI: 10.24953/turkjped.2021.5048
Lei Yu, Chao Liu, Yanhua Cui, Linlin Xue, Lishuang Ma
{"title":"Imaging manifestations of neonatal necrotizing enterocolitis to predict timing of surgery.","authors":"Lei Yu,&nbsp;Chao Liu,&nbsp;Yanhua Cui,&nbsp;Linlin Xue,&nbsp;Lishuang Ma","doi":"10.24953/turkjped.2021.5048","DOIUrl":"https://doi.org/10.24953/turkjped.2021.5048","url":null,"abstract":"<p><strong>Background: </strong>To find the predictor of optimal surgical timing for neonatal necrotizing enterocolitis (NEC) patients by analyzing the risk factors of conservative treatment and surgical therapy.</p><p><strong>Methods: </strong>Data were collected from 184 NEC patients (Surgery, n=41; conservative treatment, n=143) between the years 2015 and 2019. Data were analyzed by univariate analysis, and multivariate binary logistic regression analysis.</p><p><strong>Results: </strong>Univariate analysis showed that statistically significant differences between the surgery and conservative treatment groups. The results of multivariate Logistic regression analysis indicated intestinal wall thickening by B-ultrasound and gestational age were independent factors to predict early surgical indications of NEC (p < 0.05). The true positive rate, false positive rate, true negative rate and false negative rate in the diagnosis of necrotic bowel perforation guided by DAAS (Duke abdominal X-ray score) ≥7 and MD7 (seven clinical metrics of metabolic derangement) ≥3 were 12.8%, 0.0%, 100.0% and 87.2%, respectively.</p><p><strong>Conclusions: </strong>In summary, the ultrasound examination in NEC children showing thickening intestinal wall and poor intestinal peristalsis indicated for early operation.</p>","PeriodicalId":49409,"journal":{"name":"Turkish Journal of Pediatrics","volume":"64 4","pages":"632-639"},"PeriodicalIF":0.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33455414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Imaging spectrum of extracorporeal membrane oxygenation related neurologic events in children. 儿童体外膜氧合相关神经事件的成像谱。
IF 0.7 4区 医学
Turkish Journal of Pediatrics Pub Date : 2022-01-01 DOI: 10.24953/turkjped.2022.323
Ekim Gümeler, Banu Katlan, Şafak Parlak, Selman Kesici, Benan Bayrakcı, Kader K Oğuz
{"title":"Imaging spectrum of extracorporeal membrane oxygenation related neurologic events in children.","authors":"Ekim Gümeler,&nbsp;Banu Katlan,&nbsp;Şafak Parlak,&nbsp;Selman Kesici,&nbsp;Benan Bayrakcı,&nbsp;Kader K Oğuz","doi":"10.24953/turkjped.2022.323","DOIUrl":"https://doi.org/10.24953/turkjped.2022.323","url":null,"abstract":"<p><strong>Background: </strong>Extracorporeal membrane oxygenation (ECMO) can be associated with severe neurological complications increasing morbidity and mortality. We aimed to evaluate imaging findings in patients with neurological complications associated with ECMO.</p><p><strong>Methods: </strong>Children ( &lt; 18 years) who had ECMO support and received cross-sectional imaging (cranial CT and/ or MRI) were retrospectively evaluated. Age, gender, clinical and imaging findings were documented and the relation to ECMO duration and survival rates with imaging findings and imaging time (during ECMO or after weaning) were examined.</p><p><strong>Results: </strong>Twenty children who had cranial CT/MRI during (n=6) ECMO and after weaning (n=14) were included in the study. The median duration of ECMO was 12.5 days (IQR=5-25 days) with a survival rate of 65%. Fourteen patients had positive imaging findings including ischemic stroke (n=4), hemorrhagic stroke (n=4), hypoxicischemic encephalopathy (n=2), posterior reversible encephalopathy syndrome (PRES) (n=3) and cerebral vein thrombosis (n=1). The duration of ECMO and survival rates did not significantly differ between patients with positive and unremarkable imaging findings. However, the survival rate was significantly higher (p &lt; 0.001) and the duration of ECMO was significantly lower in patients scanned after weaning compared to patients imaged during ECMO support (p=0.033).</p><p><strong>Conclusions: </strong>Our series revealed PRES in ECMO-related neurologic events in addition to commonly reported thrombotic and hemorrhagic stroke in the literature. Availability of cross-sectional imaging and awareness of radiologists to these complications during ECMO or after weaning help in prompt diagnosis and treatment.</p>","PeriodicalId":49409,"journal":{"name":"Turkish Journal of Pediatrics","volume":"64 5","pages":"882-891"},"PeriodicalIF":0.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40441279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I. 丙酮酸激酶缺乏模拟先天性促红细胞生成性贫血I型。
IF 0.7 4区 医学
Turkish Journal of Pediatrics Pub Date : 2022-01-01 DOI: 10.24953/turkjped.2021.4704
Ayça Koca Yozgat, Arzu Yazal Erdem, Dilek Kaçar, Namık Yaşar Özbek, Neşe Yaralı
{"title":"Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I.","authors":"Ayça Koca Yozgat,&nbsp;Arzu Yazal Erdem,&nbsp;Dilek Kaçar,&nbsp;Namık Yaşar Özbek,&nbsp;Neşe Yaralı","doi":"10.24953/turkjped.2021.4704","DOIUrl":"https://doi.org/10.24953/turkjped.2021.4704","url":null,"abstract":"<p><strong>Background: </strong>Pyruvate kinase (PK) deficiency is the most common enzyme abnormality in the glycolytic pathway. Here, we describe two siblings with PK deficiency that mimicked congenital dyserythropoietic anemia (CDA) type I.</p><p><strong>Case: </strong>The siblings were referred to our hospital for evaluation of anemia when they were newborns. Their PK enzyme activities were normal. Their bone marrow aspirations and electron microscopies showed CDA-like findings. A CDA panel with next-generation sequencing showed no mutation. Though their PK enzyme levels were normal, a molecular study of the PKLR gene showed a homozygous variant c.1623G &gt; C (p.Lys541Asn) in exon 12 of our patients.</p><p><strong>Conclusions: </strong>Although the diagnosis of pyruvate kinase deficiency is difficult, it can be confused with many other diagnoses. Bone marrow findings of these cases are similar to congenital dyserythropoietic anemia. In patients with normal pyruvate kinase enzyme levels, the diagnosis cannot be excluded and genetic analysis is required.</p>","PeriodicalId":49409,"journal":{"name":"Turkish Journal of Pediatrics","volume":"64 5","pages":"951-955"},"PeriodicalIF":0.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40431122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome. 三个阿富汗兄弟姐妹具有一种新的纯合变异,并进一步描述了METTL5相关智力残疾综合征的临床特征。
IF 0.7 4区 医学
Turkish Journal of Pediatrics Pub Date : 2022-01-01 DOI: 10.24953/turkjped.2020.3992
Deniz Torun, Mutluay Arslan, Büşranur Çavdarlı, Hatice Akar, David Stephen Cram
{"title":"Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.","authors":"Deniz Torun,&nbsp;Mutluay Arslan,&nbsp;Büşranur Çavdarlı,&nbsp;Hatice Akar,&nbsp;David Stephen Cram","doi":"10.24953/turkjped.2020.3992","DOIUrl":"https://doi.org/10.24953/turkjped.2020.3992","url":null,"abstract":"<p><strong>Background: </strong>METTL5 gene is one of the members of methyltransferase superfamily and biallelic variants cause intellectual disability syndrome (ID) with microcephaly. This article reports three new cases with METTL5 related ID syndrome in a consanguineous family.</p><p><strong>Case: </strong>Afghanistan descent family was affected by a novel homozygous c.362A &gt; G (p.Asp121Gly) METTL5 gene variant. This variant is predicted to be `pathogenic` by multiple in-silico tools. Patients had dysmorphic and neurodevelopmental features including intellectual disability, microcephaly, poor/absent speech, delayed walking, aggressive behavior, large/posteriorly rotated ears, broad nasal base and short stature, which seem to be the cardinal findings of the designated syndrome.</p><p><strong>Conclusions: </strong>While the data reported in these individuals indicate characteristic clinical features of METTL5 related ID syndrome, further investigations and study of additional cases are needed to improve the understanding of disease pathogenesis, and management.</p>","PeriodicalId":49409,"journal":{"name":"Turkish Journal of Pediatrics","volume":"64 5","pages":"956-963"},"PeriodicalIF":0.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40431123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Giant cell tumor arising from the anterior arc of the rib: an extremely rare site in an adolescent girl. 起源于肋骨前弧线的巨细胞瘤:在青春期女孩中极为罕见的部位。
IF 0.7 4区 医学
Turkish Journal of Pediatrics Pub Date : 2022-01-01 DOI: 10.24953/turkjped.2021.4588
Gül Özyüksel, Burak Ardıçlı, H Nursun Özcan, Gökhan Gedikoğlu, Ali Varan, İbrahim Karnak
{"title":"Giant cell tumor arising from the anterior arc of the rib: an extremely rare site in an adolescent girl.","authors":"Gül Özyüksel,&nbsp;Burak Ardıçlı,&nbsp;H Nursun Özcan,&nbsp;Gökhan Gedikoğlu,&nbsp;Ali Varan,&nbsp;İbrahim Karnak","doi":"10.24953/turkjped.2021.4588","DOIUrl":"https://doi.org/10.24953/turkjped.2021.4588","url":null,"abstract":"<p><strong>Background: </strong>Giant cell tumor is a rare and locally aggressive neoplasm of the long bones in children. Rib is the least frequently affected site, seen in less than 1% of all cases and most of them occur at the posterior arc.</p><p><strong>Case: </strong>A 12-year-old girl presented with swelling and slight pain on the left inferior-anterior chest wall for two years. Physical examination revealed a giant, hard and fixed mass on the left chest wall. Hematological and biochemical test results were in normal limits but slight elevation of alkaline phosphatase level. Computed tomography of the chest showed a large expansive mass and lytic lesion with internal calcification arising from the anterior part of the 7th rib. En-bloc resection was performed including the 6th-8th ribs and a small part of the diaphragm. The pathological evaluation revealed giant cell tumor of bone.</p><p><strong>Conclusions: </strong>Herein, we aim to emphasize that giant cell tumor should be considered in the differential diagnosis of chest wall tumors in childhood whereby en-bloc resection and close follow up would be paramount.</p>","PeriodicalId":49409,"journal":{"name":"Turkish Journal of Pediatrics","volume":"64 5","pages":"940-945"},"PeriodicalIF":0.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40431120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
3q29 microdeletion syndrome associated with developmental delay and pulmonary stenosis: a case report. 3q29微缺失综合征与发育迟缓和肺狭窄相关:1例报告
IF 0.7 4区 医学
Turkish Journal of Pediatrics Pub Date : 2022-01-01 DOI: 10.24953/turkjped.2020.3841
Duygu Kaba, Zerrin Yılmaz Çelik
{"title":"3q29 microdeletion syndrome associated with developmental delay and pulmonary stenosis: a case report.","authors":"Duygu Kaba,&nbsp;Zerrin Yılmaz Çelik","doi":"10.24953/turkjped.2020.3841","DOIUrl":"https://doi.org/10.24953/turkjped.2020.3841","url":null,"abstract":"<p><strong>Background: </strong>3q29 microdeletion syndrome (OMIM 609425), first described in 2005, is a rare copy number variation (CNV), accompanied by various neurodevelopmental and psychiatric problems. Phenotypic features of the syndrome have not been fully characterized due to the new definition and rarity. Facial dysmorphology, musculoskeletal anomalies, cardiovascular abnormalities, gastrointestinal abnormalities, and dental abnormalities can be seen.</p><p><strong>Case: </strong>A 28-month-old male patient was brought to the child and adolescent psychiatry clinic with a complaint of speech delay. He had mild dysmorphic symptoms. He was also sensitive to voice and often covered his ears. Balloon valvuloplasty was performed on the postnatal 28th day due to severe pulmonary stenosis. While karyotype was found to be normal, in array-Comparative genomic hybridization (aCGH), copy loss was detected in the long arm of chromosome 3 (arr[hg19] 3q29[196,209,689-197,601,344]x1), which contains approximately 1.4 Mb harboring 30 genes. Genetic counseling was given to the family of the patient who was diagnosed with 3q29 microdeletion syndrome.</p><p><strong>Conclusions: </strong>In conclusion, we present 3q29 microdeletion syndrome with global developmental delay (GDD), dysmorphic face, hyperacusis, scoliosis, and severe pulmonary stenosis. Performing genetic analysis in patients with developmental delay and congenital heart disease (CHD) for which the cause cannot be explained will prevent these rare diseases from being missed, and the characteristics of the diseases will be better characterized with the reported cases.</p>","PeriodicalId":49409,"journal":{"name":"Turkish Journal of Pediatrics","volume":"64 5","pages":"925-931"},"PeriodicalIF":0.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40441285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Phenotypic and genotypic characteristics of children with Bartter syndrome. Bartter综合征患儿的表型和基因型特征。
IF 0.7 4区 医学
Turkish Journal of Pediatrics Pub Date : 2022-01-01 DOI: 10.24953/turkjped.2021.4697
Serçin Güven, İbrahim Gökçe, Ceren Alavanda, Neslihan Çiçek, Ece Bodur Demirci, Mehtap Sak, Serim Pul, Özde Nisa Türkkan, Nurdan Yıldız, Pınar Ata, Harika Alpay
{"title":"Phenotypic and genotypic characteristics of children with Bartter syndrome.","authors":"Serçin Güven,&nbsp;İbrahim Gökçe,&nbsp;Ceren Alavanda,&nbsp;Neslihan Çiçek,&nbsp;Ece Bodur Demirci,&nbsp;Mehtap Sak,&nbsp;Serim Pul,&nbsp;Özde Nisa Türkkan,&nbsp;Nurdan Yıldız,&nbsp;Pınar Ata,&nbsp;Harika Alpay","doi":"10.24953/turkjped.2021.4697","DOIUrl":"https://doi.org/10.24953/turkjped.2021.4697","url":null,"abstract":"<p><strong>Introduction: </strong>Bartter syndrome (BS) is a group of autosomal-recessive tubular disorders and it is classified into five genetic subtypes. BS can also be classified by phenotype (antenatal, classic). Patients with mutations in the same gene can present different phenotypes. In the present study, target gene sequencing was performed to evaluate the genotype-phenotype relationship.</p><p><strong>Methods: </strong>Biochemical, clinical and renal ultrasonography results were collected at presentation and the last clinic visit. Genetic analyses were performed. The findings of patients with classical BS (cBS) and antenatal BS (aBS) at presentation and the last visit were compared.</p><p><strong>Results: </strong>Our study included 21 patients (12 female, 57.1%) from 20 families with BS. The median age at diagnosis was 8 months and the median follow-up period was 39 months. The most frequent complaint was growth failure. We have found 18 different types of mutations in four genes, including nine in the CLCNKB gene, seven in the SLCA12A1 gene, one in the KCNJ1 gene and one in the BSND gene. In ten patients, nine different types of CLCNKB gene mutations were detected, five of them were novel. Seven different mutations in the SLC12A1 gene were detected in eight patients, five of them were novel. Compared to patients with aBS and cBS, prematurity was significantly higher in the group with aBS. Nephrocalcinosis was present in only one patient with cBS, all the ten hypercalciuric patients with aBS had nephrocalcinosis at the time of diagnosis and the last visit. The mean height standard deviation score (SDS) of patients with aBS were significantly lower than the cBS group at the time of presentation. The mean weight SDS at the time of presentation was worse in patients with aBS than in patients with cBS. The mean plasma potassium and chloride concentrations were significantly lower in the patients with cBS at the time of diagnosis.</p><p><strong>Conclusions: </strong>This investigation revealed the mutation characteristics and phenotype-genotype relationship of our patients and provided valuable data for genetic counseling.</p>","PeriodicalId":49409,"journal":{"name":"Turkish Journal of Pediatrics","volume":"64 5","pages":"825-838"},"PeriodicalIF":0.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40668863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
AA amyloidosis presenting with acute kidney injury, curable or not? AA淀粉样变性伴急性肾损伤,可治愈与否?
IF 0.7 4区 医学
Turkish Journal of Pediatrics Pub Date : 2022-01-01 DOI: 10.24953/turkjped.2020.3900
Berfin Uysal, Berna Aytaç Vuruşkan
{"title":"AA amyloidosis presenting with acute kidney injury, curable or not?","authors":"Berfin Uysal,&nbsp;Berna Aytaç Vuruşkan","doi":"10.24953/turkjped.2020.3900","DOIUrl":"https://doi.org/10.24953/turkjped.2020.3900","url":null,"abstract":"<p><strong>Background: </strong>Amyloidosis is a group of disorders with extracellular accumulation of autologous fibrillary insoluble proteins in various tissues and organs such as the kidneys, liver, spleen, heart and gastrointestinal tract leading to impairment of normal organ function. Childhood amyloidosis is an exceedingly rare entity mainly caused by familial Mediterranean fever (FMF) and the other autoinflammatory diseases such as mevalonate kinase deficiency (MKD).</p><p><strong>Case: </strong>A 16-year-old male was referred to pediatric nephrology for coincidentally discovered proteinuria. He had no significant findings on physical examination except for urochromic color. He had nephrotic range proteinuria with 109 mg/m2/h and serum creatinine was 1.35 mg/dl. Kidney biopsy was performed because of nephrotic range proteinuria with acute kidney injury. In hematoxylin-eosin-stained tissue sections, amyloid was suggested as extracellular amorphous material that is lightly eosinophilic in the glomeruli. Diagnosis was confirmed by Congo red positivity, with apple-green birefringence under polarized light. MEFV gene mutation was negative and a compound heterozygote mutation found in mevalonate kinase gene. A 6-monthtrial of colchicine, enalapril, and losartan combination was not successful; Canakinumab was started thereafter. Proteinuria and creatinine decreased to 7 mg/m2/h and 0.6 mg/dl respectively 4 years after treatment.</p><p><strong>Conclusions: </strong>Amyloidosis should be considered especially in children presenting with proteinuria and with a history of recurrent fever. This report also emphasizes the efficacy of canakinumab to prevent or decelerate chronic renal failure in these patients although it does not reduce tissue deposition in long-term use.</p>","PeriodicalId":49409,"journal":{"name":"Turkish Journal of Pediatrics","volume":"64 4","pages":"781-786"},"PeriodicalIF":0.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33454731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
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