The Turkish journal of pediatrics最新文献

{"title":"Single-center experience of four cases with iron-refractory iron deficiency anemia (IRIDA).","authors":"Gülin Parlak, Muhammed Doğukan Aksu, Fatma Gümrük, Şule Ünal","doi":"10.24953/turkjpediatr.2024.4522","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4522","url":null,"abstract":"<p><strong>Background: </strong>Iron refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive type of anemia characterized by unresponsiveness to oral iron therapy and partial response to parenteral iron therapy. In this article, we report the clinical presentation of four patients with IRIDA admitted to our clinic, including their laboratory values at admission and after oral and parenteral iron treatment, and the analysis of their mutation(s) in TMPRSS6 gene.</p><p><strong>Case: </strong>Four patients from different families, aged between 3 and 14 years, two girls and two boys, two of whom were from consanguineous marriages, who were diagnosed with iron deficiency anemia in primary health care institutions and referred to our clinic because of inadequate response to oral iron treatment were included. Patients were evaluated for the differential diagnosis of microcytic, hypochromic anemia and investigated for the etiology of IDA. Homozygous or compound heterozygous mutations causing defective matriptase-2 protein expression were detected in the TMPRSS6 gene; these mutations included four frameshift mutations-two of which were the same in two cases and causing premature terminal stop codons-and a nonsense mutation, all of which were previously demonstrated in the literature. The response to parental iron therapy ranged from complete non-response to mild to good response in hemoglobin levels, but none of the patients showed improvement in iron parameters.</p><p><strong>Conclusions: </strong>Increased awareness of IRIDA and keeping it in mind in the differential diagnosis in the presence of hypochromic microcytic anemia that does not respond to iron treatment will be crucial in improving the diagnosis and treatment of the disease and ultimately enhancing the quality of care for affected individuals.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"658-665"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711223","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":"Dent's disease: case series from a single center.","authors":"Hilal Yaşar, Emre Leventoğlu, Bahar Büyükkaragöz, Kibriya Fidan, Sevcan A Bakkaloğlu, Oğuz Söylemezoğlu","doi":"10.24953/turkjpediatr.2024.4556","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4556","url":null,"abstract":"<p><strong>Background: </strong>Dent's disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease. With this manuscript, we reported three patients diagnosed as DD in our department in the last 10 years and thereby described the genetics, pathophysiology, clinical presentation, course and management of the disease.</p><p><strong>Cases: </strong>The first case was a male newborn who was consulted to our department after medullary nephrocalcinosis was detected. The second case was a 4-year-old boy who was treated with a diagnosis of urinary tract infection but was found to have proteinuria. Our last case was an 11-month-old male infant who was being followed up for recurrent urinary tract infection and who had millimetric crystalloids in the renal collecting system. Proteinuria and hypercalciuria were present in all cases. Variants were observed in the CLCN5 gene for the first two cases (c.1852G>A and c.1557+1G>T, respectively) and OCRL gene (c.952C>T) for the last case. All patients were recommended oral hydration and a low-salt diet, and hydrochlorothiazide and enalapril were started. No deterioration in kidney function was observed in any patient.</p><p><strong>Conclusion: </strong>DD is a disease that shows different phenotypes even among individuals with mutations in the same gene. Therefore, it should be considered in all patients with hypercalciuria, proteinuria, nephrolithiasis or nephrocalcinosis with/without proximal tubular dysfunction especially in the early childhood period. Classical treatments for hypercalciuria should be utilized, and a patient-based treatment plan should be drawn especially for proteinuria.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"649-657"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712353","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":"Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta.","authors":"Musa Öztürk, Ebru Aypar, Hülya Demir, Hayriye Hızarcıoğlu Gülşen, İlker Ertuğrul, Murat Güvener, Ergün Barış Kaya","doi":"10.24953/turkjpediatr.2024.5206","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.5206","url":null,"abstract":"<p><strong>Background: </strong>Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase enzyme deficiency resulting in the cumulative deposition of glucocerebroside in macrophages, predominantly effecting bone marrow, liver and spleen. Gaucher disease type IIIC is a rare subtype that is characterized by cardiovascular involvement, eye-movement disorders, and late-onset neurological symptoms.</p><p><strong>Case presentation: </strong>We present a 14-year-old adolescent boy diagnosed with Gaucher disease type IIIC at age four with a homozygous D409H mutation who developed severe aortic valve stenosis, extensive aortic calcification and a porcelain aorta despite enzyme replacement treatment since the diagnosis. Despite the challenges during the cardiac surgery, we successfully performed transcatheter aortic valve implantation (TAVI). The patient developed a complete atrioventricular block and required a pacemaker after the TAVI. He experienced further complications during the follow-up.</p><p><strong>Conclusion: </strong>The case presents the challenges in the treatment of cardiovascular complications in patients with Gaucher disease and demonstrates the importance of individualized treatment approaches, as well as the potential advantages and complications of TAVI in difficult situations like this.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"643-648"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712363","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":"Sedation - analgesia - muscle relaxant - withdrawal and delirium practices in pediatric intensive care units in Türkiye.","authors":"Esra Koçkuzu, Ali Korulmaz, Ümit Altuğ, Gürkan Bozan, Dinçer Yıldızdaş","doi":"10.24953/turkjpediatr.2024.4830","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4830","url":null,"abstract":"<p><strong>Background: </strong>Pain and sedation management is an integral part of pediatric intensive care practice. Sedoanalgesia management must be balanced in order to optimize comfort and avoid complications. In order to achieve this balance, sedoanalgesia management needs to be clarified in pediatric intensive care units (PICU). With this study, we aimed to investigate sedation, analgesia, withdrawal and delirium practices, pharmacologic agent preferences, and current experiences and practices in scoring systems in PICUs in Türkiye.</p><p><strong>Method: </strong>A questionnaire consisting of 57 questions was sent via e-mail to the 'Pediatric Intensive Care and Emergency' group, which includes all intensive care specialists, subspecialty students and lecturers in Türkiye.</p><p><strong>Results: </strong>Our study involved 36 pediatric intensive care physicians working in PICUs in Türkiye. Among the PICU specialists who participated in the study, 83.3% stated that they performed routine assessments of sedation efficacy. While dexmedetomidine was the most commonly used sedative agent in patients undergoing noninvasive mechanical ventilation, benzodiazepines were the most preferred pharmacologic agent for sedation during mechanical ventilation. Of the pediatric intensivists who participated in the study, 94.4% stated that they performed routine pain assessments in their units. Of the PICU specialists who participated in the study, 69.4% stated that muscle relaxants were most commonly used to prevent patient-ventilator incompatibility during mechanical ventilation. Of the participants, 88.8% made withdrawal assessments when discontinuing sedo-analgesic agents. Delirium assessment was routinely performed by 58.3% of the participants.</p><p><strong>Conclusions: </strong>This study showed that the practices in sedoanalgesia management in PICUs in Türkiye are in parallel with recommendations of the sedation guideline. Despite the increased sensitivity in sedoanalgesia management, awareness in the management of delirium and withdrawal syndrome is not at the desired level. Therefore, there is a need to develop guidelines, raise awareness and increase training on these issues in our Türkiye.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"556-566"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712369","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":"Differences in physical activity, sedentary time, and anthropometric variables among children and adolescents: The TUBON project.","authors":"Necip Demirci, Ayda Karaca, Emine Çağlar, Pelin Aksen, Nigar Küçükkubaş, Mehmet Mesut Çelebi, Erdem Karabulut, Gıyasettin Demirhan, Sadettin Kirazcı, Elif Nursel Özmert","doi":"10.24953/turkjpediatr.2024.5300","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.5300","url":null,"abstract":"<p><strong>Background: </strong>Although physical inactivity may lead to increasing obesity prevalence, research on anthropometric variables changes based on physical activity (PA) in children and adolescents is limited. PA decreases with age, while sedentary behavior increases. The study aimed to examine differences in objectively measured sedentary time, light-intensity physical activity (LPA), and moderate-to-vigorous intensity physical activity (MVPA) between children and adolescents, and the differences in the percentiles of anthropometric variables between physically active and inactive groups according to World Health Organization PA recommendations.</p><p><strong>Methods: </strong>A total of 759 participants aged 6-17 years (boys, n=358; girls, n=401) were included in the study. The ActiGraph wGT3x-BT accelerometer was used to measure sedentary time, LPA, and MVPA. Height, weight, waist circumference (WC), triceps skinfold thickness (T-SFT), and medial-calf skinfold thickness (M-SFT) were measured. Body fat percentage (BF%) and body mass index (BMI) were calculated, and the percentiles of anthropometric variables were categorized.</p><p><strong>Results: </strong>The findings showed that children had less sedentary time and a higher LPA than adolescents for both genders (p<0.05). Children had a higher MVPA than adolescents in girls (p<0.05), but the difference was insignificant in boys (p>0.05). In boys, physically active children were in lower percentiles for T-SFT and BF% than those who did not (p<0.05). In boys, adolescents who were physically inactive were in higher percentiles for BMI, T-SFT, M-SFT, and BF% (p<0.05). In addition, in girls, adolescents who were physically active were in lower percentiles of BMI, M-SFT, and BF%, whereas children who were physically active were in lower percentiles of M-SFT and BF% (p<0.05).</p><p><strong>Conclusion: </strong>Sedentary time increases while PA decreases with age. Children and adolescents who met the WHO PA recommendation had lower percentiles of anthropometric variables, indicating the importance of PA in preventing obesity in these age groups.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"511-524"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712354","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":"Foreign body aspiration through the eyes of a pediatric pulmonologist: Is it possible to reduce the rate of negative rigid bronchoscopies?","authors":"Birce Sunman, Halime Nayır Büyükşahin, İsmail Güzelkaş, Didem Alboğa, Meltem Akgül Erdal, Havva İpek Demir, Raziye Atan, Burcu Çapraz Yavuz, Burak Ardıçlı, İdil Rana User, Özlem Tekşam, Nagehan Emiralioğlu, Ebru Yalçın, Deniz Doğru, Uğur Özçelik, Nural Kiper","doi":"10.24953/turkjpediatr.2024.4571","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4571","url":null,"abstract":"<p><strong>Background: </strong>Identifying a foreign body aspiration (FBA) still remains a diagnostic difficulty. Moreover, the indications for bronchoscopy in subjects of suspected foreign bodies are not clear. The aim of this study was to evaluate the effectiveness of pediatric pulmonologists in diagnosing FBA.</p><p><strong>Methods: </strong>This was a retrospective, single-center study on children who underwent rigid bronchoscopy for suspected FBA. Data on the patients were obtained from the medical records. Patients who had foreign bodies (FB) identified during rigid bronchoscopy were classified as FB positive, and those in whom rigid bronchoscopy did not detect FB were defined as FB negative. Demographic data as well as consultation status with a pediatric pulmonologist were compared between these two groups. Furthermore, the patients were categorized into three groups based on their clinical scores that assessed the likelihood of the presence of FB: low risk, moderate risk, and high risk.</p><p><strong>Results: </strong>Out of 474 rigid bronchoscopies, 232 (48.9%) detected FB. Consultation by a pediatric pulmonologist was not requested in 388 (81.8%). Out of these 388 patients, 206 (53%) were negative for FB. In terms of FB detection success, there was no difference between individuals who sought pulmonology consultation and those who did not (58.1% vs. 53.1% respectively, p=0.059). However, when the children were categorized based on their risk levels, the incidence of detecting FB among children in low-risk group was 42% when they received consultation from the pulmonology department, whereas this incidence dropped to 5.6% when pulmonology consultation was not sought (p<0.001).</p><p><strong>Conclusions: </strong>Consulting a pediatric pulmonologist, particularly for low-risk individuals, might reduce the likelihood of performing unnecessary bronchoscopies. Given that rigid bronchoscopy is an intrusive technique, it is crucial to reduce the number of negative bronchoscopies in order to mitigate complications associated with it.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"578-587"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712357","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":"Changes in skin barrier integrity by electrical impedance spectroscopy during dupilumab treatment on a child with severe atopic dermatitis.","authors":"Elif Yaycı, Işıl Ezelsoy, Beliz Su Gündoğdu, Betül Büyüktiryaki, Cansın Saçkesen","doi":"10.24953/turkjpediatr.2024.4902","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4902","url":null,"abstract":"<p><strong>Background: </strong>Atopic dermatitis (AD) is a chronic inflammatory skin disease characterized by epidermal skin barrier dysfunction and altered immune response. Electrical impedance spectroscopy (EIS) has been used as a novel tool to detect skin barrier changes in AD. EIS is a non-invasive measure of the electrical impedance of tissue and is sensitive to cellular structure and extracellular environment.</p><p><strong>Case presentation: </strong>An 8-year-old girl presented with severe AD, starting at 3 years of age. She also had allergic rhinitis, food allergies, and sensitization to mites, eggs, and nuts. Unresponsive to other treatments, she was administered 300 mg of dupilumab, a monoclonal antibody inhibiting IL-4 and IL-13 activity. Patient's response to the treatment and skin barrier integrity was followed for 6 months: First at the baseline (before dupilumab) and then again at the 1st, 2nd, 3rd, and 5.5th month after dupilumab with SCORing Atopic Dermatitis (SCORAD), as well as measurements of moisture by MoistureMeterSC (Delfin®) and EIS by Nevisense® (SciBase) on the forearm and antecubital fossa of the same arm. At the end of 6 months, her SCORAD improved from 96 to 37. The moisture measurements were variable. The EIS by Z1 score in the forearm increased from 72 to 141 and EIS by MIX scores increased from 2.7 to 6.2. The correlation between SCORAD and forearm EIS by Z1 and MIX scores were significant: r=-0.913, (p=0.03) and r=-0.881, (p=0.049). The correlation between forearm MIX scores with sleeplessness and itching was significant: r=-0.956, (p=0.011), r=-0.942, (p=0.017).</p><p><strong>Conclusion: </strong>As higher EIS scores reflect stronger barrier integrity, the increase in Z1 and MIX obtained from Nevisense® implies an improvement in the skin barrier integrity during dupilumab treatment. This report highlights the potential use of EIS in atopic dermatitis patients to evaluate treatment efficacy. We urge rapid and non-invasive use of EIS in pediatrics to be further investigated in clinical settings.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"637-642"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712365","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":"Multipotent mesenchymal stromal cell therapy for a neonate with congenital diaphragmatic hernia and adhesive small bowel obstruction.","authors":"Şükran Yıldırım, Aliye Kandırıcı","doi":"10.24953/turkjpediatr.2024.4856","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4856","url":null,"abstract":"<p><strong>Background: </strong>In the last decade, therapy using multipotent mesenchymal stromal cells (MSCs) has offered hope for regenerating the lungs of preterm babies with chronic lung disease. Due to similar disease mechanisms, it is logical to explore the potential impact of MSC therapy on pulmonary hypoplasia in congenital diaphragmatic hernia. Furthermore, MSCs may also contribute to the regeneration of the intestines affected by adhesive small bowel obstruction in patients with congenital diaphragmatic hernia.</p><p><strong>Case presentation: </strong>A female newborn, delivered at 32 weeks and six days gestational age, was diagnosed with a left congenital diaphragmatic hernia. After surgical repair and respiratory/nutritional support for 39 days, she was still dependent on a ventilator and total parenteral nutrition. Two MSC treatments were given a week apart: 10 million cells/kg intratracheally and 5 million cells/kg intravenously. She was extubated, and her enteral nutrition improved after the treatment. No side effects were detected. We present the first documented case using MSCs derived from the umbilical cord to simultaneously treat pulmonary hypoplasia and adhesive small bowel obstruction of congenital diaphragmatic hernia.</p><p><strong>Conclusion: </strong>Although MSC treatment is very promising for pulmonary hypoplasia and adhesive small bowel disease of congenital diaphragmatic hernia, much more needs to be learned about potential side effects, appropriate dosage, and the optimal method of administration.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"630-636"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712367","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":"Child health in the first 100 years of Republic of Türkiye: a story of hope, labor and success.","authors":"Canan Seren","doi":"10.24953/turkjpediatr.2024.4523","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4523","url":null,"abstract":"<p><p>The Republic of Türkiye commemorated its 100th year in 2023. Within one century, a battle weary, poor country has changed into a powerful, game changing leader in the world. This was accomplished by the motivation and overwork of the Turkish nation and a great leader, Mustafa Kemal Atatürk. The status of child health in 1923 can be summarized as high infant and under-five mortality rates, epidemic diseases and hardly any healthcare facilities and health-care professionals. Since a healthy, well educated workforce was one of the main requirements for the development of the young republic, child health was given a great emphasis. With the efforts of the whole nation, many children's hospitals were established, infant mortality decreased, and malaria, neonatal tetanus, polio and diphtheria were eradicated. In this article, the progression of child health in the first 100 years of the Republic of Türkiye will be reviewed.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"387-400"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485119","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":"A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation.","authors":"Gönül Büyükyılmaz, Mihriban İnözü, Büşranur Çavdarlı","doi":"10.24953/turkjpediatr.2024.4702","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4702","url":null,"abstract":"<p><strong>Background: </strong>The mitochondrial DNA (mtDNA) m.3243A>G mutation is one of the most common pathogenic mtDNA variants. The phenotypes associated with this mutation range from asymptomatic induviduals to well-defined clinical syndromes, or non-syndromic mitochondrial disorders. Variable clinical features in pediatric cases may cause difficulty in diagnosis. Kidney involvement in this mutation is uncommon and reported on a case-by-case basis. Here, we report on a patient with m.3243A>G mutation, who presented with short stature and proteinuria, and his family, who share the same genotype but exhibit different heteroplasmy levels in different tissues and variable phenotypes.</p><p><strong>Case presentation: </strong>A 15-year-old male patient was admitted to the pediatric endocrinology department with short stature. His examinations revealed nephrotic range proteinuria, hearing loss, impaired glucose tolerance, and Wolf-Parkinson-White syndrome. From family history, it was learned that diabetes mellitus (DM) and progressive sensorineural hearing loss were common in this family. The patient's mother, who had chronic kidney disease, DM, and hearing loss, had died suddenly for an unknown reason. Considering the family history, a genetic analysis was performed for mitochondrial disease. Mitochondrial DNA analysis revealed a m.3243A>G mutation with 47% heteroplasmy in blood, 62% heteroplasmy in buccal cells, and 96% heteroplasmy in urothelial cells in our patient.</p><p><strong>Conclusions: </strong>Short stature without any other complaint and renal involvement are rare findings in m.3243A>G mutation. In patients presenting with proteinuria, in the presence of conditions affecting many systems such as endocrine system pathologies, hearing loss, and cardiac pathologies, and in the presence of individuals with a similar family history of multiple organ involvement, mitochondrial diseases should be considered, and examined from this perspective. Our case illustrates the value of a detailed medical and family history.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"490-498"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485115","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}