hrp0098p2-114 | Fat, Metabolism and Obesity | ESPE2024

The Association between Metabolic markers, Liver function enzymes, Vitamin D level, and Lung Function Tests in Overweight/obese Children with and without Asthma

Noor Safa , Hamdoun Elwaseila , Shailesh Harshita , Hani Yahya , Belavendra Antonisamy , Hasabelgawi Lina , Janahi Ibrahim

Introduction: The coexistence of asthma and obesity presents a significant clinical challenge, as both conditions independently contribute to systemic inflammation, metabolic dysregulation, and impaired respiratory function. Metabolic markers can potentially provide insights into the pathophysiological mechanisms that link obesity and asthma. The aimof this study was to investigate the association between metabolic markers, vitamin D and lung function in child...

hrp0092p2-131 | Fat, Metabolism and Obesity | ESPE2019

Serum 25-hydroxyvitamin D Levels and Insulin Sensitivity Across Pubertal Stages in Obese Children

Wankanit Somboon , Poomthavorn Preamrudee , Mahachoklertwattana Pat

Background: Decreased serum 25-hydroxyvitamin D (25-OHD) level has frequently been reported in obesity, a condition which is associated with insulin resistance. Insulin resistance was negatively associated with serum 25-OHD. Puberty is the period with altered insulin sensitivity. Previous studies showed conflicting results of the variation of serum 25-OHD levels across pubertal stages. However, data on serum 25-OHD levels across pubertal stages in obese childr...

hrp0086p1-p207 | Diabetes P1 | ESPE2016

Interrelation between ACE Gene I/D Polymorphism and Chronic Kidney Disease Severity in Uzbek Children and Adolescents with Type 1 Diabetes Mellitus

Rakhimova Gulnara , Sadykova Akida

Background: Generally, diabetic nephropathy onsets and progresses within 5–10 years after DM onset resulting in chronic kidney disease (CKD) causing death in every 4–5th patient with type I DM. Molecular-genetic studies of endogenous/genetic CKD risk factors are of high relevance in understanding of pathogenetic mechanisms underlying formation of nephrosclerosis, and in improvement of interventions.Objective and hypotheses: To assess renal func...

hrp0084p3-687 | Diabetes | ESPE2015

Correlation of Vitamin D Levels with Glycaemic Control, Total Daily Insulin Dose, BMI, and Ethnicity in Paediatric Patients with Type 1 Diabetes Mellitus

Bianco Monica , Durazo Ramon , Durazo-Arvizu Ramon , Minutti Carla

Background: Type 1 diabetes mellitus (T1DM) is an autoimmune and inflammatory process and vitamin D (VD) is thought to reduce inflammation and prevent autoimmune destruction. Studies have shown that VD has an effect on insulin secretion and sensitivity in rats. And it has been shown that adult T2DM with normal levels of VD have decreased insulin requirements. Two prior studies in Turkey looked at the relationship between VD levels and daily insulin requirement in paediatric pa...

hrp0082p2-d1-328 | Diabetes | ESPE2014

Functional Condition of the Kidneys (K/DOQI, 2002) By ACE Gene I/D Polymorphism in Children and Adolescents with Type I Diabetes Mellitus

Sadykova Akidahon , Rakhimova Gulnara

Objective and hypotheses: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Method: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years. GFR wa...

hrp0098ha1 | Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β‐hydroxylase deficiency and vitamin D‐resistant bone rickets | ESPE2024

Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β-hydroxylase deficiency and vitamin D-resistant bone rickets

Janot Clément , Lucas Cécily , Mallet Delphine , Demdoum Mohammed , Martinez Antoine , Plotton Ingrid , Reynaud Rachel , Rigaud Chantal , Silve Caroline , Val Pierre , Roucher-Boulez Florence

Backgrounds and Aims: Primary adrenal insufficiency (PAI) is due to impaired production of steroid hormones by the adrenal cortex. Among PAI of genetic origin, most cases have congenital adrenal hyperplasia (CAH), due to 21-hydroxylase or less frequently 11β-hydroxylase deficiency (11OHD), but 5% have no clear genetic support. Adrenal steroidogenesis pathway comprises three P450 cytochrome-based mitochondrial oxidative steps (CYP11A1, CYP11B1 and CYP11B2)...

hrp0084p2-288 | Diabetes | ESPE2015

Functional Condition of the Kidneys (K/DOQI, 2002) by ACE Gene I/D Polymorphism in Children and Adolescents with Type 1 Diabetes Mellitus

Rakhimova Gulnara , Sadikova Akida , Alimova Nasiba

Aim: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Materials and methods: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years; 95% CI: 13.3...

hrp0098p2-312 | Late Breaking | ESPE2024

Infantile Hypercalcemia Type 2 due to a novel compound heterozygous association in the SLC34A1 gene in a neonate with hypercalcemia and nephrocalcinosis

T Papadimitriou Dimitrios , Fourikou Maria , Ververi Athina , Kaffe Katerina , Mantsiou Chrysanthi , Goudesidou Maria , N Grivea Ioanna , D Kollios Konstantinos

SLC34A1 gene encodes for the sodium-phosphate cotransporter 2A (NPT2a), highly expressed in the proximal renal tubule. Three different human phenotypes have been linked with NaPi-IIa variation: Hypophosphatemic Nephrolithiasis with Osteoporosis, Renotubular Fanconi Syndrome Type 2 and Infantile Hypercalcemia 2 (HCINF2). Dysfunctional NPT2a can lead to renal phosphate loss, hypophosphatemia, increased CYP27B, decreased CYP24A1 expression with increased 1,25(OH)2D and suppressed...

hrp0095p1-20 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Report of the first paediatric case of hypercalciuric hypocalcaemia managed with simultaneous parathyroid and kidney transplantation

Oprea Alina , Jones Helen , Buck Jackie , Kessaris Nicos , D. Sinha Manish , Ware Nick , Cheung Moira

Background:Calcium-sensing receptors (CaSR) located on parathyroid glands and kidneys act to regulate serum calcium levels. Inherited hypocalciuric hypercalcaemia and autosomal dominant hypercalciuric hypocalcaemia are due to inactivating and activating CaSR mutations respectively. We present the immediate and medium term postoperative clinical course of the first paediatric patient with hypercalciuric hypocalcaemia managed with a simultaneous parathyroid and ...

hrp0082p2-d3-307 | Bone (2) | ESPE2014

Suppression of Bone Turnover and its Determinants in Children Receiving Bisphosphonate Therapy

Kyriakou Andreas , McNeilly Jane D , McMillan Martin , Shaikh Guftar M , Mason Avril , Ahmed Syed Faisal

Background: Bisphosphonate therapy (BPT) reduces osteoclast activity and may be associated with adynamic bone turnover. The extent of suppression of bone turnover and its determinants are unclear.Method: Markers of bone metabolism were evaluated in 15 children (9M/6F) undergoing BPT for osteoporosis. The median age at first biochemical assessment was 10.8 years (0.16, 16.3). Serum type I collagen cross-linked C-telopeptide (CTX), alkaline phosphatase (AL...