The Turkish journal of pediatrics最新文献

{"title":"Pneumatosis intestinalis: Does it always indicate necrotizing enterocolitis?","authors":"Yeşim Coşkun, Mehmet Ali Özen, Kalender Kayaş, Çiğdem Arıkan, Tuğba Gürsoy","doi":"10.24953/turkjpediatr.2024.5308","DOIUrl":"10.24953/turkjpediatr.2024.5308","url":null,"abstract":"<p><strong>Background: </strong>Pneumatosis intestinalis (PI) is a rare radiological finding that may be associated with various diseases. In the neonatal period, it is considered pathognomonic for necrotizing enterocolitis (NEC). Cow's milk protein allergy (CMA) is the main cause of allergy especially in term infants appearing following breastfeeding or consumption of milk-based formulas.</p><p><strong>Case report: </strong>We report three neonates presenting with PI and diagnosed with CMA and/or NEC. Case 1 was a 44-day-old preterm infant admitted to the hospital for nutritional deficiency and jaundice, who later developed PI and a NEC-like appearance (NEC-LA). Case 2 was born at 28 weeks' gestation and developed PI and NEC-LA five times. Case 3 was a 24-day-old term neonate who was admitted to the hospital due to acute gastroenteritis and developed PI and NEC-LA. Only case three required a surgical intervention. After feeding the infants an amino acid-based formula, clinical manifestations improved quickly, and the disease did not relapse. In our opinion, CMA was the correct diagnosis for cases 1 and 3. However, case 2 developed two NEC episodes and three NEC-LA episodes, which were thought to be related to CMA.</p><p><strong>Conclusions: </strong>In addition to NEC, CMA should be considered in every PI, and recurrent NEC feeding should begin in accordance with a CMA management protocol.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"768-774"},"PeriodicalIF":0.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142981040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of ocular posterior segment parameters in the pediatric population with migraine without aura and tension-type headache.","authors":"Ulviye Kıvrak, Mehmet Tolga Köle, İbrahim Kandemir, İsmail Kaytan","doi":"10.24953/turkjpediatr.2024.4687","DOIUrl":"10.24953/turkjpediatr.2024.4687","url":null,"abstract":"<p><strong>Background: </strong>This study aims to compare the posterior ocular structure parameters in children with migraine without aura (MWA), tension-type headache (TTH), and a healthy control group.</p><p><strong>Methods: </strong>The study included 31 patients with MWA, 29 patients with TTH, and 38 healthy controls between 6 and 18 years of age. For all participants, the detailed eye examination and measurements including peripapillary retinal nerve fiber layer (pRNFL) thickness, central macular thickness (CMT), subfoveal choroidal thickness (SCT), macular vessel densities and foveal avascular zone (FAZ) parameters measured by optical coherence tomography (OCT) and OCT-angiography (OCTA), were obtained from the patient files.</p><p><strong>Results: </strong>The mean age was 12.1±3.3 years in MWA patients, 12.4±2.8 years in TTH patients, and 11.9±3.8 years in the healthy controls (p=0.844). Among the groups, the mean pRNFL thickness, CMT, and SCT values were lowest in the MWA group. However, this difference was not statistically significant (p=0.621, p=0.854 and p=0.201, respectively). The mean and four-quadrant (superior, inferior, temporal, nasal) pRNFL thicknesses, the CMT, and the SCT were not statistically significant between the groups (p=0.621, p=0.500, p=0.186, p=0.565, p=0.744, p=0.854 and p=0.201, respectively). The macular vascular densities were lower in MWA patients than in the other two groups, and there was a statistically significant difference between the groups only in the nasal quadrant of the deep retinal capillary plexus (p = 0.014). There were also no statistically significant differences between the groups in the superficial and deep FAZ area parameters (p=0.652 and p=0.985).</p><p><strong>Conclusion: </strong>This study suggested that differential diagnosis between MWA and TTH can be difficult in childhood, as these conditions, which can present with ocular symptoms, may also be characterized by changes in posterior segment parameters. Long-term studies incorporating OCT-A in larger patient populations may provide valuable insights into retinal changes associated with these two distinct headache spectrums.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"758-767"},"PeriodicalIF":0.0,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metoclopramide-induced rapid-onset psychosis in a child with methylphenidate use: a case report.","authors":"Gökçen İlçioğlu Ekici, Gülser Şenses Dinç, Ayşegül Neşe Çıtak Kurt","doi":"10.24953/turkjpediatr.2024.5319","DOIUrl":"10.24953/turkjpediatr.2024.5319","url":null,"abstract":"<p><strong>Background: </strong>Metoclopramide, a dopamine antagonist employed for its antiemetic effects, can precipitate neuropsychiatric adverse effects, including extrapyramidal symptoms and, in a few instances, acute psychosis. Although there have been reports of metoclopramide-induced psychosis in elderly individuals, there is no documentation of such incidents in children as far as we are aware.</p><p><strong>Case presentation: </strong>This case report describes an 11-year-old girl with a history of mild intellectual disability and attention deficit hyperactivity disorder, managed with 10 mg of methylphenidate daily. She presented to the emergency department with acute gastrointestinal symptoms and was administered two tablets of metoclopramide alongside her regular dose of methylphenidate. Subsequently, she developed psychotic symptoms, disorganized behavior, and agitation. An extensive medical evaluation ruled out other organic pathologies, leading to a diagnosis of rapid-onset psychosis induced by metoclopramide. The psychotic episode, which lasted approximately two weeks, resolved with low-dose antipsychotic treatment.</p><p><strong>Conclusions: </strong>Children, especially those with neurodevelopmental disorders, are more susceptible to a wide range of side effects. Therefore, this report highlights the necessity for careful pharmacological management. Additionally, this case represents a significant contribution to the scientific literature by being the first to document metoclopramide-induced acute psychosis in children to the best of our knowledge.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"775-780"},"PeriodicalIF":0.0,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142981039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The importance of targeted next-generation sequencing based genomic profiling in the diagnosis of childhood acute myeloid leukemia: a single center experience.","authors":"Dilek Kaçar, Büşranur Çavdarlı, Ayça Koca Yozgat, Melek Işık, Fatma Burçin Kurtipek, Fatma Tuba Yıldırım, Turan Bayhan, Dilek Gürlek Gökçebay, Namık Yaşar Özbek, Neşe Yaralı","doi":"10.24953/turkjpediatr.2024.4699","DOIUrl":"10.24953/turkjpediatr.2024.4699","url":null,"abstract":"<p><strong>Background: </strong>The management of pediatric acute myeloid leukemia (AML) is based on the prognostic risk classification of initial leukemia. Targeted next-generation sequencing (NGS) is a reliable method used to identify recurrently mutated genes of pediatric AML and associated prognosis.</p><p><strong>Methods: </strong>In this study, we retrospectively evaluated the prognostic, and therapeutic utility of a targeted NGS panel covering twenty-five genes, in 21 children with de novo and 8 with relapsed or secondary AML.   Results. Variants were detected in 44.8% of patients, and 63.2% of them were in the signaling pathway genes. The number of variants per patient and diversity increased with age. The panel results affected hematopoietic stem cell transplantation decisions, especially in core binding factor AML, and allowed the categorization of diseases according to current classifications. Panel results also pointed out predisposition to germline leukemia to the extent of the panel coverage. No targeted therapy was used based on the variants, and none of the variants were used to monitor minimal residual disease.</p><p><strong>Conclusions: </strong>Targeted NGS results, along with well-known genetic aberrations and treatment responses, can guide treatment modalities. The coverage of the routine panels should include proven mutations of childhood AML and germline leukemia predisposition genes.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"727-736"},"PeriodicalIF":0.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anti-SRP myositis: a diagnostic and therapeutic challenge.","authors":"Merve Cansu Polat, Didem Ardıçlı, Banu Çelikel Acar, Beril Talim, Nesrin Şenbil, Elif Çelikel","doi":"10.24953/turkjpediatr.2024.4916","DOIUrl":"10.24953/turkjpediatr.2024.4916","url":null,"abstract":"<p><strong>Background: </strong>Anti-signal recognition protein (anti-SRP) myopathy is a rare idiopathic inflammatory myopathy in children. Herein, a 3-year-old patient with severe anti-SRP myopathy showing a rapidly progressive disease course is presented in order to increase the awareness of pediatricians about idiopathic inflammatory myopathies.</p><p><strong>Case presentation: </strong>A previously healthy 3-year-old girl presented with progressive symmetrical proximal muscle weakness that caused difficulty in climbing stairs for two months prior to evaluation, and a marked elevation of the serum creatine kinase levels. A skeletal muscle biopsy revealed necrotic and regenerating processes, with mild inflammatory changes. Myositis-specific and associated autoantibodies tested by the immunoblot method were positive for anti-SRP. Pulse corticosteroid, intravenous immunoglobulin, and methotrexate were administered. However, muscle weakness progressed, respiratory distress and dysphagia developed. Rituximab was initiated. While on rituximab treatment, she was able to walk independently and muscle enzymes were within normal range at the 15th month of diagnosis.</p><p><strong>Conclusion: </strong>Early diagnosis of patients with anti-SRP myositis is important to control inflammation and prevent disease progression and complications. To our knowledge, our patient is the youngest case reported in the literature and was successfully treated with rituximab added to conventional therapy.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"792-800"},"PeriodicalIF":0.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk factors of disease severity and mechanical ventilation requirement in childhood Guillain-Barré Syndrome.","authors":"Gül Yücel, Ahmet Kadir Arslan, Bilge Özgör, Serdal Güngör","doi":"10.24953/turkjpediatr.2024.4658","DOIUrl":"10.24953/turkjpediatr.2024.4658","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to investigate the risk factors associated with the severity of the disease, the need for mechanical ventilation (MV) and poor prognosis in the early stages of Guillain-Barré Syndrome (GBS).</p><p><strong>Methods: </strong>Data of children who met GBS diagnostic criteria were evaluated retrospectively. The sample was divided into three binary subgroups according to severe GBS (Hughes Functional Grading Scale [HFGS] ≥ 4 at admission), mechanical ventilation (MV) requirement, and poor prognosis (inability to walk independently, HFGS ≥ 3 after six months). Various clinical, laboratory and electrophysiological parameters were compared between these subgroups.</p><p><strong>Results: </strong>The mean age of 63 children with GBS was 91.55±49.09 months. 13 (20.6%) patients required MV and 4 (6.3%) patients died. Associated risk factors for the need for MV in severe GBS were found to be autonomic dysfunction, bulbar palsy, sensory impairment, lowest total Medical Research Council (MRC) scale for muscle strength score at admission, high modified Erasmus GBS respiratory failure score (mEGRIS), high neutrophil-lymphocyte ratios (NLR) and high systemic immune-inflammation index (SII) values (p<0.001, p=0.003, p=0.033, p<0.001, p<0.001, p=0.037 and p=0.042, respectively). The lowest total MRC scale for muscle strength score at admission was a significant indicator of poor prognosis (p<0.001).</p><p><strong>Conclusions: </strong>Autonomic dysfunction, bulbar palsy, sensory impairment, lowest total MRC scale for muscle strength score at admission, high mEGRIS score, high NLR and SII values are potential risk factors for the need for MV in children with severe GBS. The lowest total MRC scale for muscle strength score at admission was associated with poor prognosis.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"746-757"},"PeriodicalIF":0.0,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142981049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Griscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.","authors":"Taha Solakoğlu, Gamze Sönmez, Ateş Kutay Tenekeci, Hira Altunbüker, Halil Tuna Akar, Feyzi İlhan Tezcan, Deniz Cagdas","doi":"10.24953/turkjpediatr.2024.4602","DOIUrl":"10.24953/turkjpediatr.2024.4602","url":null,"abstract":"<p><strong>Background: </strong>Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease.</p><p><strong>Case: </strong>After referral at 19 days of age with restlessness, left testicular swelling, and erythema, an infant was diagnosed with bilateral hydrocele with left testicular torsion by testicular ultrasound, leading to a left orchiectomy. Pathology showed testicle and spermatic cord hemorrhagic necrosis. A week later, the infant presented with right testicular swelling and hepatosplenomegaly. He had silvery gray hair. We administered broad-spectrum antibiotics for increased acute phase reactants. Viral panels, including cytomegalovirus and Epstein-Barr virus, were negative. Laboratory findings indicated cholestasis and disseminated intravascular coagulation. Bone marrow aspiration revealed hemophagocytosis and increased histiocytes. Microscopic hair examination supported the diagnosis of GS. Sanger sequencing revealed the homozygous mutation c.217T>G (p.W73G) in RAB27A.</p><p><strong>Conclusion: </strong>Prompt diagnosis and treatment of HLH are crucial to prevent progression to multi-organ failure and death. This case highlights the diverse tissue involvement and diagnostic challenges in Griscelli syndrome type 2.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"786-791"},"PeriodicalIF":0.0,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143056178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adaptation of the Problem Areas in Diabetes-Teen Scale into Turkish and examination of its psychometric properties: a validity and reliability study.","authors":"Seda Aybüke Sarı, Ezgi Agadayı, Nurullah Çelik, Seher Karahan, Ayça Kömürlüoğlu, Esra Döğer","doi":"10.24953/turkjpediatr.2024.4535","DOIUrl":"10.24953/turkjpediatr.2024.4535","url":null,"abstract":"<p><strong>Objective: </strong>Management of type 1 diabetes (T1DM) is quite challenging for both adolescents and their families. In this study, we aimed to translate the 14-item Problem Areas in Diabetes-Teen (PAID-T) scale, which measures variables that influence diabetes distress, to Turkish and investigate the Turkish version's reliability and validity.</p><p><strong>Methods: </strong>One hundred and ninety-four adolescents with T1DM participated in the study. PAID-T and forms for sociodemographic and diabetes characteristics were used for data collection. The scale's content validity was checked using the Davis technique. Cronbach's α was used to analyze the scale's internal reliability and the test-retest for the scale's reliability. Exploratory factor analysis (EFA) was utilized to examine the factor structure. The fit of the scale was assessed using confirmatory factor analysis (CFA).</p><p><strong>Results: </strong>Of the participants, 54.6% (n=106) were girls. The content validity index values of the scale items ranged between 0.86 and 1.0. The PAID-T scores of girls and boys were similar. No significant difference was found between PAID-T scores with sociodemographic data and diabetes characteristics (p>0.05). The test-retest correlation coefficient of the scale was found to be 0.952. The three-factor (emotional burden, family and friend distress, and regimen-specific distress) model identified in EFA explained 61.8% of the common variance. Fit analysis was performed using CFA for the three-factor model, which did not show adequate fit (x2/df = 2.402, GFI = 0.822, CFI = 0.815, NFI = 0.727, NNFI = 0.772, RMSEA = 0.118). The Cronbach α value of the scale was 0.864.</p><p><strong>Conclusion: </strong>The Turkish version of the 14-item PAID-T showed moderate validity and strong reliability. Accordingly, it can be used as a reliable measurement tool to assess diabetes stress in adolescents with T1DM.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"588-598"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sexually transmitted infections in sexually abused children: an audit project to implement PCR tests in a child advocacy center in Türkiye.","authors":"Sıtkı Tıplamaz, Zeynep Ergenc, Murat Yaman, Tuğçe Kalaman, Elvan Sayın, Fatih Hitami Usluoğulları, Zeynep Arzu İlki, Nurver Ülger Toprak, Eda Kepenekli Kadayıfçı, Mehmet Akif İnanıcı","doi":"10.24953/turkjpediatr.2024.5188","DOIUrl":"10.24953/turkjpediatr.2024.5188","url":null,"abstract":"<p><strong>Background: </strong>Sexual abuse in children can sometimes result in sexually transmitted infections (STIs), which can serve as crucial forensic evidence. Although PCR methods are now accepted as the gold standard for STI screening, they have not yet widely replaced traditional culture methods in Türkiye. This study aims to assess the necessity of implementing PCR-based STI testing at Child Advocacy Centers in Türkiye, where such testing is not routinely available.</p><p><strong>Methods: </strong>Conducted between February and November 2023, this study included children who presented to the Child Advocacy Center of Marmara University Pendik Training and Research Hospital. High-risk victims were identified based on criteria including a history of penetrative sexual abuse and factors such as multiple perpetrators or significant age disparity. Serological tests and genital swabs were collected and analyzed using both bacterial culture methods and a comprehensive STI PCR panel.</p><p><strong>Results: </strong>The study included 20 victims, with a median age of 16 years. STI PCR testing detected pathogens in 19 out of 21 samples, including Chlamydia trachomatis (20%) and Neisseria gonorrhoeae (5%). In contrast, culture methods identified no sexually transmitted pathogens.</p><p><strong>Conclusion: </strong>PCR testing demonstrated significantly higher sensitivity for detecting STIs compared to traditional bacterial culture methods, as expected. Implementing PCR-based STI testing in Child Advocacy Centers is an urgent and essential need for providing an accurate diagnosis and robust forensic evidence, enhancing the care and legal protection of sexually abused children.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"618-624"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye.","authors":"Kısmet Çıkı, Ceren Alavanda, Emine İpek Ceylan, Tijen Tanyalçın, Sebile Kılavuz","doi":"10.24953/turkjpediatr.2024.5075","DOIUrl":"10.24953/turkjpediatr.2024.5075","url":null,"abstract":"<p><strong>Background: </strong>Biotin is a water-soluble vitamin that plays a key role in carboxylation. The formation of free biotin is impaired in biotinidase deficiency (BD), resulting in impaired biotin-dependent carboxylase functions. Based on the percentage of residual serum enzyme activity, BD is classified as partial and profound.</p><p><strong>Methods: </strong>Retrospective data including gender, age, parental consanguinity, family history, biotinidase activity analyses, type of deficiency (partial-profound), physical examination, treatment, and genotypes were evaluated in patients diagnosed with biotinidase deficiency in a single center in the eastern region of Türkiye. Patients whose biotinidase enzyme activity was below 30% with biallelic variants in the BTD gene were diagnosed as BD.</p><p><strong>Results: </strong>A total of 302 patients were included in the study. Parental consanguinity was present in 135 (44.7%) of them. Two hundred eighty-six (94.7%) were diagnosed by neonatal screening, 14 (4.6%) by family screening and two (0.06%) by clinical symptoms. Ninety-two (30.5%) of the patients were followed-up with profound deficiency and 210 (69.5%) with partial deficiency. A total of 306 variants were detected. Twenty different variants (3 novel - 3 rare) and 31 different genotypes were detected. The 3 most frequently detected variants were c.410G>A (p.Arg137His; 47.3%), c.1270G>C (p.Asp424His; 29.7%), and c.38_44delGCGGCTGinsTCC (p.Cys13Phefs*36; 15.3%). The 3 most frequently identified genotypes were c.410G>A (p.Arg137His) / c.1270G>C (p.Asp424His) compound heterozygous (32.4%), c.410G>A (p.Arg137His) homozygous (24.8%), and c.38_44delGCGGCTGinsTCC (p.Cys13Phefs*36) / c.1270G>C (p.Asp424His) compound heterozygous (12.2%). Patients with c.410G>A (p.Arg137His) homozygous variant, c.38_44delGCGGCTGinsTCC (p.Cys13Phefs*36) homozygous variant and c.38_44delGCGGCTGinsTCC (p.Cys13Phefs*36) / c.410G>A (p.Arg137His) compound heterozygous variant were statistically significantly associated with profound deficiency. Compound heterozygosity of c.410G>A (p.Arg137His) / c.1270G>C (p.Asp424His) variants were significantly associated with partial deficiency.</p><p><strong>Conclusions: </strong>The association between the BTD genotype and biochemical phenotype is not always consistent. Our study provides valuable data by adding variants with genotype-phenotype correlations to the literature and three novel variants, which can provide significant guidance in clinical follow-up.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"608-617"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}