hrp0098p1-17 | Bone, Growth Plate and Mineral Metabolism 1 | ESPE2024

New clinical phenotypes associated with ALPL mutations

R Farman Mariam , Rehder Catherine , Malli Theodora , Rockman-Greenberg Cheryl , Dahir Kathryn , Ángel Martos-Moreno Gabriel , Linglart Agnès , Ozono Keiichi , Seefried Lothar , del Angel Guillermo , Högler Florian , Montero-Lopez Rodrigo , Barbazza Francesca , Burner Nading Erica , Huggins Erin , T Rush Eric , K Javaid Muhammad , Muche Burkhard , T Tauer Josephine , S Kishnani Priya , Webersinke Gerald , Högler Wolfgang

Objectives: HPP is a multisystem disorder caused by ALPL variants that lead to ALP deficiency and excessive inorganic pyrophosphate, which inhibits mineralization of bones and teeth. A range of symptoms is associated with HPP inherited in an autosomal dominant manner that can manifest at any stage of life, making diagnosis difficult. The traditional method of classifying HPP into different types based on the onset of symptoms (prenatal benign, perinat...

hrp0092p3-276 | Late Breaking Abstracts | ESPE2019

Exocrine Pancreatic Insufficiency and Vitamin K Deficiency Associated to Octreotide Therapy in Congenital Hyperinsulinism: An Under-Recognized Potential Adverse Effect

Ros-Pérez Purificación , Golmayo Luz , Cilleruelo M. Luz , Gutierrez Carolina , Celaya Patricia , Lacamara Nerea , Martinez-Badás Itziar , Güemes María , Argente Jesús

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

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...

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...

hrp0098p1-4 | Adrenals and HPA Axis 1 | ESPE2024

The Role of Endogenous Opioids (EOPs) in Ischaemic Pre-Conditioning (IPC) in Humans

Muhammad Shahid

Background: Timely reperfusion of ischaemic tissue is prerequisite to improve outcomes of CVD, but paradoxically reperfusion causes injury to tissues. This concept is referred to as ischaemia-reperfusion (IR) injury. Studies are thriving to better understand IR injury and develop novel treatments to minimise this. One such approach is termed ischaemic preconditioning (IPC) which entails brief periods of alternating ischaemia and reperfusion prior to t...

hrp0084p1-16 | Bone | ESPE2015

Diverse Presentations of Hypophosphatasia in Paediatric Patients: A Review of the Case Literature

Sawyer Eileen K , Anderson Karen

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disease resulting from loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Understanding of the clinical presentation is largely based on single case reports, which presents challenges for the recognition and diagnosis of HPP.Objective: To better understand disease presentation, we surveyed the literature to characterize clinical features and presentat...

hrp0089p2-p049 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Pediatric Quality of Life Inventory in Children with Osteogenesis Imperfect in Dr Soetomo Hospital Surabaya

Rochmah Nur , Faizi Muhammad

Osteogenesis imperfecta is a heritable systemic disorder of bone and connective tissue. Acceptance of children and their family is associated with medical, growth, developmental conflicts, physical, social and emotional. The study about impact of OI in children’s quality of life is still limited. Aims is to analyze PedsQL score in OI children in Dr. Soetomo Hospital, Surabaya.Methode: This study is a cross sectional study held in pediatric endocrine...

hrp0089p3-p113 | Diabetes & Insulin P3 | ESPE2018

Fructosamine Level in Type 1 Diabetes Mellitus Children Performing Ramadhan Fasting

Faizi Muhammad , Rochmah Nur

Background: Ramadan fasting may influence metabolic control in Type 1 Diabetes Mellitus. Fructosamine is an accurate metabolic control in a short-term period. Comparison of fructosamine between intensive and conventional insulin regimen in T1DM children has not been widely studied.Objective: To compare fructosamine level between intensive and conventional insulin regimens during Ramadan Fasting in T1DM.Methods: Observational analyt...

hrp0089p3-p115 | Diabetes & Insulin P3 | ESPE2018

Association between Thyroid Stimulating Hormone and Hemoglobine A1c in Type 1 Diabetes Mellitus Children

Rochmah Nur , Faizi Muhammad

Background: Type 1 Diabetes Mellitus children are at risk to suffer from thyroid dysfunction. The association between thyroid stimulating hormone and hemoglobin A1c is still controversy.Objective: To determine the association between thyroid stimulating hormone and hemoglobin A1c in type 1 Diabetes Mellitus children.Methods: We conducted a cross sectional study from January - June 2017 in pediatric endocrine outpatient clinic dr So...

hrp0098p2-338 | Late Breaking | ESPE2024

Reducing BMI below the obesity threshold in children aged 6 to <12 years treated with once-daily liraglutide 3.0 mg: A secondary analysis of the SCALE Kids study

K. Fox Claudia , Barrientos-Pérez Margarita , M. Bomberg Eric , Dcruz John , Gies Inge , Majlund Harder-Lauridsen Nina , Yazid Jalaludin Muhammad , Sahu Kushal , Weimers Petra , Zueger Thomas , Arslanian Silva

Childhood obesity is associated with present and future complications, including type 2 diabetes and cardiovascular disease. Although lifestyle interventions (i.e. dietary and physical activity counselling) are the cornerstone of therapy, their impact on body mass index (BMI) is limited. The phase 3a SCALE Kids study (NCT04775082) demonstrated superiority of liraglutide 3.0 mg versus placebo, plus lifestyle interventions, for BMI reduction in children with general (i.e. non-mo...