Journal of Pediatric Endocrinology & Metabolism最新文献

{"title":"Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant.","authors":"Cemre Kara, Engin Köse, Fatma Tuba Eminoğlu","doi":"10.1515/jpem-2024-0530","DOIUrl":"10.1515/jpem-2024-0530","url":null,"abstract":"<p><strong>Objectives: </strong>Niemann-Pick type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic pathogenic variants in the <i>NPC1</i> or <i>NPC2</i> genes, leading to lysosomal lipid accumulation. NPC has an incidence of 1 in 100,000 live births and presents with a wide range of symptoms affecting visceral organs and the central nervous system. We aim to describe the diverse clinical presentations of NPC through case studies.</p><p><strong>Case presentation: </strong>We report seven NPC patients from five families, showcasing the variability in clinical manifestations. The most common finding was hepatosplenomegaly (70 %), followed by prolonged jaundice (57 %) and neonatal cholestasis. Pulmonary alveolar proteinosis (PAP) was observed in three patients with biallelic pathogenic variants in the <i>NPC2</i> gene. Neurological symptoms, including vertical gaze palsy and epilepsy, were noted in patients with juvenile onset form. Genetic analyses identified a novel homozygous c.315del (p.Thr106ProfsTer5) variant in the <i>NPC2</i> gene, associated with early infantile onset.</p><p><strong>Conclusions: </strong>NPC presents with diverse clinical findings across ages. Early hepatic symptoms in infants and neuropsychiatric issues in older patients warrant a high index of suspicion for NPC in such cases. A multidisciplinary approach is crucial for patient management, and further research is needed to clarify genotype-phenotype relationships in NPC.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142957901","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}

{"title":"The effect of phlebotomy and placement of an intravenous catheter on plasma catecholamine and serum copeptin concentrations.","authors":"Shruti Sastry, Emir Tas, Domenic Filingeri, Erika McCann, Rahul Amruthapuri, Michael J McPhaul, Luigi Garibaldi","doi":"10.1515/jpem-2024-0422","DOIUrl":"10.1515/jpem-2024-0422","url":null,"abstract":"<p><strong>Objectives: </strong>Limited data are available on the hormonal response of children to venepuncture or intravenous cannulation (IVC). Catecholamines (epinephrine (E) and norepinephrine (NE)) have been traditionally recognized as stress hormones. Copeptin, the carboxyl-terminus of the arginine vasopressin (AVP) precursor peptide, is also a known marker for stressful stimuli, including myocardial infarction, critical illness, and sepsis. We aimed to measure the above stress markers in response to IVC in the pediatric population.</p><p><strong>Methods: </strong>We measured plasma E, NE and serum copeptin concentrations in 100 children aged 5-17 years undergoing endocrine testing. Labs were drawn 1-3 min (min) after placement of IV cannula (baseline or 0 min) and then re-measured 20 min later (+20 min) while subjects rested in a quiet room.</p><p><strong>Results: </strong>Between 0 and 20 min, the median (IQR) NE (n=99) changed from 349 (244, 482) pg/mL to 253 (184, 348) pg/mL (p<0.001); E (n=54) changed from 57 (43, 116) pg/mL to 57 (38, 96) pg/mL (p=0.024); Copeptin changed from 9.4 (6.3, 15.2) pmol/L to 9 (5, 13) pmol/L (p<0.001). The mean decrease (delta) was 106 pg/mL for NE (28 %, p<0.001), 16 pg/mL for E (18 %, p=0.042) and 2.7 pmol/L for copeptin (17 %, p=0.012). There was no correlation between the decrease (expressed as a percentage) in NE vs. E, E vs. copeptin, and NE vs. copeptin.</p><p><strong>Conclusions: </strong>Our data suggest that the stress of IVC induces a rapid increase in NE, E, as previously described, as well as copeptin levels. The copeptin decrement, concordant with the catecholamine trend in the minutes after IVC, supports this peptide (and AVP) as a rapid response marker of stress, and has unclear practical implications for copeptin measurements in evaluating fluid and sodium metabolism disorders in children.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"110-115"},"PeriodicalIF":1.3,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142840112","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}

{"title":"Immune checkpoint inhibitors and endocrinopathies in pediatric brain tumor patients.","authors":"Carly R Westermann, Tom B Davidson, Kaaren Waters, Ashley S Margol, Clement C Cheung","doi":"10.1515/jpem-2024-0243","DOIUrl":"10.1515/jpem-2024-0243","url":null,"abstract":"<p><strong>Objectives: </strong>Immune checkpoint inhibitors (ICIs) are emerging treatment options for children with brain tumors, who are already at risk for developing endocrinopathies due to tumor location and treatment. Endocrine ICI-related adverse effects (irAEs) are common in adults but poorly characterized in the pediatric population. The aims of this study were to determine in pediatric brain tumor patients in a single institution (1) if endocrine surveillance took place before and after ICIs were initiated, and (2) the occurrence of endocrine irAEs.</p><p><strong>Methods: </strong>This is a retrospective chart review of 22 pediatric brain tumor patients treated with ICIs at Children's Hospital Los Angeles between 2010 and 2022. We analyzed endocrine laboratory results, patient demographics, and treatment course.</p><p><strong>Results: </strong>Most patients (82 %) received surveillance in at least one endocrine system before ICI treatment - all had thyroid function tested (100 %) whereas non-thyroid endocrine functions were seldomly assessed (6-22 %). Only those patients with surveillance prior to treatment had ongoing surveillance after ICI initiation - 100 % for thyroid function and 17-39 % for other endocrine systems. Hypothyroidism was the only endocrine problem diagnosed after ICI initiation, in two patients (9 %). Of note, most patients (68 %) expired during or shortly after ICI treatment.</p><p><strong>Conclusions: </strong>This is one of the first institutional surveys of pediatric ICIs in a high-volume pediatric brain tumor center. Thyroid surveillance commonly occurred in pediatric patients, revealing diagnoses of hypothyroidism, which is consistent with adult data. However, little information is available for non-thyroid endocrine conditions, reflecting the need for comprehensive and systematic endocrine surveillance.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"58-64"},"PeriodicalIF":1.3,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11832116/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nephrogenic diabetes insipidus results from a novel in-frame deletion of <i>AVPR2</i> gene in monozygotic-twin boys and their mother and grandmother.","authors":"Shengfang Qin, Zemin Luo, Jin Wang, Xueyan Wang, Ximin Chen, Mengling Ye, Xiangyou Leng","doi":"10.1515/jpem-2024-0301","DOIUrl":"10.1515/jpem-2024-0301","url":null,"abstract":"<p><strong>Objectives: </strong>Mutations in the <i>AVPR2</i> gene are the most common cause of nephrogenic diabetes insipidus (NDI). In-frame deletions of the <i>AVPR2</i> gene are a rare variant that results in NDI. We report a novel variant of the p.H138del in an NDI family with twin male patients and three female carriers of different clinical phenotypes.</p><p><strong>Methods: </strong>The proband's blood genome was sequenced with a panel, and the variants were classified according to ACMG/AMP (2015) guidelines. X chromosome inactivation (XCI) was analyzed in the peripheral blood of his mother, grandmother, and maternal aunt, respectively. The haplotypes of the X chromosome were determined using their STR loci.</p><p><strong>Results: </strong>A novel in-frame deletion in the <i>AVPR2</i> gene was detected in monozygotic-twin boys, and his mother, grandmother, and maternal aunt were heterozygous carriers. The two boys showed typical NDI, and their mother and grandmother presented polydipsia, polydipsia, and polyuria, but the maternal aunt did not have similar symptoms. The blood XCI results of the mother, grandmother, and maternal aunt showed random inactivation (36.18 , 48.37, and 49.30 %, respectively). The X haplotype indicated that the variant of the mother and grandmother was on their activated X chromosomes(Xa), while the maternal aunt's variant was on her inactivated X chromosome(Xi).</p><p><strong>Conclusions: </strong>In-frame deletion of the <i>AVPR2</i> gene within its functional domain can significantly affect protein function, which is one of the vital causes of NDI. The clinical variability of female carriers of <i>AVPR2</i> is associated with underlying environmental and epigenetic factors or complex recombination of the X chromosomes.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"162-171"},"PeriodicalIF":1.3,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796244","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}

{"title":"Reviewer Acknowledgment.","authors":"","doi":"10.1515/jpem-2024-2001","DOIUrl":"https://doi.org/10.1515/jpem-2024-2001","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142683273","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}

{"title":"Association between overweight or obesity and vitamin D status in preschool children: an epidemiological survey in Beijing, China, 2021-2023.","authors":"Li Yuan, Huiyu Wang, Yan Luo, Lei Wang","doi":"10.1515/jpem-2024-0330","DOIUrl":"10.1515/jpem-2024-0330","url":null,"abstract":"<p><strong>Background: </strong>Previous studies have shown that vitamin D deficiency is a risk factor for obesity in children and adolescents, but most focus on school-age children and adolescents, with little attention paid preschoolers.</p><p><strong>Objectives: </strong>To explore the relationship between overweight or obesity in the context of vitamin D intake among preschool children in Beijing, and analyze the correlation.</p><p><strong>Methods: </strong>A total of 51,640 preschoolers (26,775 boys; 24,865 girls), aged 1-6 years, were recruited for physical examination. Overweight or obesity was defined according to the World Health Organization Child Growth and Development Standards (2006 edition). Serum 25-hydroxy (OH) vitamin D levels were determined using standardized liquid chromatography-tandem mass spectrometry (LC-MS/MS), and vitamin D status was evaluated based on the Practice Guide on Clinical Issues Related to Vitamin D Nutrition in Chinese Children (2022).</p><p><strong>Results: </strong>No significant change was observed in the incidence of overweight (7.72, 7.51, and 7.24 %) or obesity (2.75, 2.63, and 2.40 %) from 2021 to 2023. Among boys, 7.3 % were overweight and 2.8 % were obese. Among girls, 7.6 % were overweight and 2.3 % were obese. Vitamin D deficiency (2.10, 1.70, and 1.01 %) and insufficiency rate (24.09, 18.42, and 15.44 %) showed a decreasing trend. Deficiency or insufficiency was most common in children aged 36-59 months, and serum 25- (OH) vitamin D levels were significantly lower in winter compared to other seasons, with the highest levels in summer. Time spent outdoors was significantly less among children with vitamin D deficiency or insufficiency, and preschoolers who spent more than 2.94 h/day had higher serum vitamin D level. Serum 25- (OH) vitamin D levels were negatively correlated with body mass index (BMI), with overweight or obesity preschoolers showing significantly lower than their normal weight group. After adjusting for age, gender and season, family economic status, guardian educational level and time spent outdoors, the odds of vitamin D deficiency and insufficiency in overweight or obesity in preschoolers were 1.025 (95 % Cl: 1.002-1.174), 1.218 (95 % Cl: 1.099-1.708), respectively.</p><p><strong>Conclusions: </strong>From 2021 to 2023, there was no significant change in the incidence of overweight or obesity among preschool children in Beijing. Furthermore, the rate of vitamin D deficiency or insufficiency decreased year by year. Vitamin D deficiency or insufficiency associates with factors such as age, season of the year, and time spent outdoors, and there is an association between overweight or obesity and vitamin D status among preschoolers.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630900","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}

{"title":"A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita.","authors":"Aikaterini Mastoropoulou, Andrew H Lane","doi":"10.1515/jpem-2024-0321","DOIUrl":"10.1515/jpem-2024-0321","url":null,"abstract":"<p><strong>Objectives: </strong>We describe a male with adrenal hypoplasia congenita (AHC) caused by a novel mutation in <i>NR0B1</i>, who was noted at 9 months of age to have central precocious puberty (CPP).</p><p><strong>Case presentation: </strong>A 3-week-old full-term male presented with hypothermia and lethargy, and a 0.3 kg weight loss since birth. Labs were consistent with adrenal crisis, he was stabilized with stress dose hydrocortisone (HC), insulin, and antibiotics, and he was admitted to the Pediatric Intensive Care Unit. Subsequent labs revealed primary adrenal insufficiency with abdominal ultrasound remarkable for nonvisualization of the adrenal glands. Genetic testing identified a novel pathogenic c.707G>A [p.Trp236ter] nonsense variant in the DNA-binding domain of <i>NR0B1</i> (DAX-1) confirming AHC. The patient was discharged with HC, fludrocortisone, and sodium supplementation with good tolerance and interval weight gain and normal electrolytes. At 9 months of age, the patient developed signs of precocious puberty, which failed to self-resolve or diminish with increased dosing of HC, and by the age of 15 months, he was treated with leuprolide acetate.</p><p><strong>Conclusions: </strong>Historically, hypogonadotropic hypogonadism has been observed in 76 % of adolescent patients with AHC who have alterations in <i>NR0B1</i>. CPP has been infrequently described in AHC, and the natural history and management of CPP in this setting is not established. Our observations may contribute to the understanding of factors influencing normal and abnormal puberty in infants. Increased awareness of the possibility of CPP in AHC will aid clinicians in the earlier clinical and laboratory detection of this complication.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"1086-1090"},"PeriodicalIF":1.3,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523540","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}

{"title":"Association between partial remission phase in type 1 diabetes and vitamin D receptor <i>Fok1 rs2228570</i> polymorphism.","authors":"Randa Mahmoud Masoud, Nour Mohamed Abdel-Kader, Abdel-Rahman B Abdel-Ghaffar, Said Salama Moselhy, Yasmine Ibrahim Elhenawy","doi":"10.1515/jpem-2024-0324","DOIUrl":"https://doi.org/10.1515/jpem-2024-0324","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of the current study was to assess the natural course of partial remission (PR) phase of type 1 diabetes (T1D) and to highlight the putative association between vitamin D receptor (VDR) (Fok1) gene polymorphism and PR phase.</p><p><strong>Methods: </strong>Ninety participants with newly diagnosed T1D were followed up for a total of 12 months. The VDR (Fok1) rs2228570 gene polymorphism was genotyped using allelic discrimination (AD) assay.</p><p><strong>Results: </strong>Fifty-four patients (60 %) reached PR with an average duration of 5.63 ± 2.9 months. Among remitters, the frequency of CC \"FF\" genotype and allelic frequency of C \"F\" were significantly higher (p<0.001). Furthermore, participants expressing \"CC\" genotype had earlier onset of PR and spent a significantly longer duration in remission (p<0.001). Younger age (p<0.001; OR 41.6; CI 12.12-142.99), absence of DKA (p<0.001; OR 16, CI 4.36-50.74), higher C-peptide levels (p<0.001; OR 19.55; CI 6.52-58.63), and presence of CC \"FF\" genotype of VDR (p<0.001; OR 6.74; CI 2.41-18.86) best predicted the overall occurrence of PR.</p><p><strong>Conclusions: </strong>Younger age, less extent of metabolic derangements, and expression of a CC \"FF\" genotype were found to influence the occurrence of PR. Data from the current study showed that the \"C\" allele could have a protective role on preserving residual β-cell mass and could predict both onset and duration of PR among newly diagnosed T1D. These findings support the growing concept of future tailored precision medicine.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141654","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}

{"title":"Long-term efficacy and safety of PEGylated recombinant human growth hormone in treating Chinese children with growth hormone deficiency: a 5-year retrospective study.","authors":"Lele Hou, Shaofen Lin, Zulin Liu, Lina Zhang, Hui Ou, Siqi Huang, Huilian Dai, Zhe Meng, Liyang Liang","doi":"10.1515/jpem-2024-0189","DOIUrl":"10.1515/jpem-2024-0189","url":null,"abstract":"<p><strong>Objectives: </strong>The study endeavored to evaluate the prolonged efficacy and safety of PEGylated rhGH (PEG-rhGH) administration in Chinese children diagnosed with growth hormone deficiency (GHD) over a 5-year period.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on children with GHD, who received a 0.2 mg/kg/week dose of PEG-rhGH between 2016 and 2023 in our department.</p><p><strong>Results: </strong>The height standard deviation score (Ht SDS) exhibited a marked elevation post-PEG-rhGH administration (p<0.001), sustaining this enhancement beyond year 3, with increments recorded at 0.94±0.37, 1.49±0.48, 1.77±0.51, 2.12±0.65, and 2.15±0.58 across 5 years. Similarly, the height velocity (HV), insulin-like growth factor-1 standard deviation score (IGF-1 SDS), and bone age to chronological age ratio (BA/CA ratio) underwent significant augmentations (p<0.01). Remarkably, no signs of rapid bone maturation were detected during the 5-year observation. Among the participants, 31 patients (59.62 %) experienced adverse events, of which eight instances (15.38 %) were classified as treatment-related adverse events, but none were severe or unexpected. Additionally, high-density lipoprotein (HDL) levels rose while low-density lipoprotein (LDL) levels fell, both remaining within the standard range throughout the treatment phase.</p><p><strong>Conclusions: </strong>Administering PEG-rhGH at a dosage of 0.2 mg/kg/week proved both effective and well-tolerated in treating prepubertal children with GHD. This regimen also demonstrated positive impacts on lipid metabolism over an extended treatment period.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"892-899"},"PeriodicalIF":1.3,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074410","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}

{"title":"Urinary biomarkers NG AL and beta-2 microglobulin in children with type 1 diabetes mellitus.","authors":"Nimisha Sachan, Aashima Dabas, Mukta Mantan, Pradeep K Dabla","doi":"10.1515/jpem-2024-0172","DOIUrl":"10.1515/jpem-2024-0172","url":null,"abstract":"<p><strong>Objectives: </strong>To study the urinary neutrophil gelatinase-associated lipocalin (NGAL) and beta-2-microglobulin (β2M) levels as markers of tubular damage in children with type 1 diabetes (T1DM).</p><p><strong>Methods: </strong>Forty T1DM children and 40 age-matched controls were enrolled. Subjects with coexisting kidney disorder, intake of oral glucose lowering drugs and syndromic diabetes mellitus were excluded. Fasting plasma glucose, glycated hemoglobin (HbA_1c), kidney function, urinary albumin-creatinine ratio (UACR), NGAL and β2M were measured and compared in cases and controls.</p><p><strong>Results: </strong>The median (IQR) age of cases and controls was 10.6 (8, 14.2) and 10.7 (8.4, 13.7) years, respectively. Cases had disease duration of 4 (3, 6.8) years and HbA_1c 10.9 (9, 13.1) %. Microalbuminuria was seen in 14 (35 %). Median (IQR) levels of UACR were higher in cases than controls [19.38 (10.27, 35.26) and 6.49 (3.10, 11.65) µg/mg; p<0.001], similarly NGAL/creatinine [352.21 (191.49, 572.45) and 190.54 (125.91, 322.83) ng/mg; p=0.006], unlike β2M/creatinine [1.7 (0.43, 6.02) and 2.12 (1.05, 4.47) µg/mg; p=0.637]. Children with higher HbA_1c (≥10 %) had higher urinary ACR and tubular biomarkers than HbA_1c<10 % (p>0.05). Urinary ACR showed positive correlation with NGAL/creatinine (r=0.38, p=0.019) and β2M/creatinine (r=0.42, p=0.009).</p><p><strong>Conclusions: </strong>Urinary biomarkers NGAL and β2M were elevated in the presence of normal urinary microalbumin levels suggestive of early tubular damage in T1DM.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"764-772"},"PeriodicalIF":1.3,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142019387","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}