hrp0097p2-173 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Caval calcium infusion is the best solution for patients with hereditary vitamin D resistant rickets (HVDRR)

Abdulhamid Ihab , Khater Doaa

Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by end organ resistance to 1α,25-dihydroxyvitamin D3 (1,25D3). The syndrome is recognized by severe early onset rickets with bowing of the lower extremities, short stature, often alopecia and severe hypocalcemia.Objectives: To study the effectiveness of our designed protocol of continuous high dose intracaval calcium infusion for the tre...

hrp0086p1-p124 | Bone & Mineral Metabolism P1 | ESPE2016

Two French Families with Vitamin D Dependency Rickets Type 1B Harbor Homozygous Recessive Expression Of CYP2R1 Mutations L99P and G42_L46DEL INSR

Molin Arnaud , Feillet Francois , Demers Nick , Wiedemann Arnaud , Brennan S , Kaufmann Martin , Jones Glenville , Kottler Marie Laure

Vitamin D dependency rickets type 1B (VDDR-1B) is a rare condition classified as rickets due to inadequate 25-hydroxylation of vitamin D. In this study, we describe rickets and loss-of-function CYP2R1 mutations in 6/10 individuals tested from two unrelated families. Five patients in family 1 (F1) have homozygous L99P mutations; while one member of family 2 (F2) has novel homozygous mutations at G42_L46del insR. The mutations, as well as another variant M248I found in ...

hrp0089p3-p035 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Our Treatment Experience with Nocturnal Continuous Enteral Calcium Infusion in a Case with Vitamin D Resistance Rickets Type II

Filibeli Berna Eroğlu , Kırbıyık Ozgur , Dundar Bumin Nuri

Introduction: Vitamin D resistant rickets type II (VDDR-II) is a disease with a difficult treatment developed as a result of mutations in VDR gene. Despite high dose active vitamin D and oral calcium treatments, sufficient recovery cannot be achieved mostly. Successful results with intravenous calcium infusion that is an alternative treatment have been reported; however, serious restrictions and complications such as hospitalization, catheter infection, thrombosis, skin necros...

hrp0092fc5.1 | Thyroid | ESPE2019

Randomised Trial of Block and Replace Versus Dose Titration Antithyroid Drug Treatment in Children and Adolescents with Thyrotoxicosis

Wood Claire , Cole Michael , Donaldson Malcolm , Dunger David , Matthews John , Pearce Simon , Cheetham Tim

Background: First line treatment for thyrotoxicosis is thionamide (TA) antithyroid drug therapy. The TA used is usually Carbimazole in the UK. TA can be administered in a relatively large 'blocking' dose that prevents endogenous thyroid hormone synthesis, requiring thyroid hormone replacement (block and replace or BR), or in a smaller dose that renders the patient euthyroid (dose titration or DT). The American Thyroid Association (ATA) recommends DT be...

hrp0094p2-450 | Thyroid | ESPE2021

Initial response to thionamide medication in young people with newly diagnosed thyrotoxicosis

Wood Claire , Morrison Niamh , Cole Michael , Donaldson Malcolm , Dunger David , Wood Ruth , Pearce Simon , Cheetham Tim

Methods: Patients commenced 0.75mg/kg carbimazole (CBZ) daily with randomisation to either BR or DT. We examined baseline patient characteristics, CBZ dose, time to serum TSH/FT4 normalisation and BMI Z-score. Results: There were data available from 80 patients (baseline) and 78 patients (61 female) at 6 months. Mean CBZ dose was 0.9 mg/kg/day (BR) and 0.5 mg/kg/day (DT). There was no difference in the time taken for...

hrp0094p2-63 | Bone, growth plate and mineral metabolism | ESPE2021

Diagnostic Challenges of Vitamin D-Dependent Rickets Type 1A (VDDR1A) caused by CYP27B1 mutation in Resource Limited Countries: A Case Series from Three families

Aftab Sommayya , Shaheen Tahir , Nadeem Anjum Muhammad , Imran Ahmed , Saeed Anjum , Ali Qureshi Abid , Cheema Huma Arshad ,

Background & Aim: Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive condition caused by mutation in CYP27B1, which encodes 1 α-hydroxylase enzyme that catalyzes the conversion of 25-hydroxyvitamin D (25OHD) to 1,25-dihydroxyvitamin D (1,25 (OH)2D). We are reporting 4 cases of VDDR1A due to CYP27B1 mutation initially misdiagnosed as vitamin D deficient and hypophosphatemic rickets.<p class="abstext...

hrp0086fc15.4 | Late Breaking | ESPE2016

Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions with Adrenodoxin

Legeza Balazs , Ma Nina , Zalewski Adam , Renthal Nora , Fluck Christa , Pandey Amit

Background: CYP27B1 converts 25-hydroxyvitamin D3 to active 1,25-dihydroxyvitamin D3, playing a vital role in calcium homeostasis and bone growth. Vitamin D-dependent rickets type 1 (VDDR-1) is a rare autosomal recessive disorder caused by mutations in CYP27B1.Objective and hypotheses: Enzymatic and structural analysis of mutations in a patient with calcipenic rickets.Method: Two siblings presented with calcip...

hrp0082fc3.5 | Diabetes | ESPE2014

Pancreatic N-Methyl-D-Aspartate Receptors as Novel Drug Targets for The Treatment of Diabetes Mellitus

Welters Alena , Marquard Jan , Otter Silke , Stirban Alin , Eglinger Jan , Herebian Diran , Stozer Andraz , Wnendt Stephan , Piemonti Lorenzo , Kohler Martin , Schliess Freimut , Rupnik Marjan Slak , Heise Tim , Berggren Per-Olof , Klocker Nikolaj , Mayatepek Ertan , Eberhard Daniel , Kragl Martin , Lammert Eckhard , Meissner Thomas

Background: N-methyl-D-aspartate receptors (NMDARs) are ionotropic glutamate receptors that are widely expressed in the CNS where they play an important role in neurotransmission and cell viability and serve as drug targets for the treatment of neurodegenerative disorders.Objective and hypotheses: Much less is known about the role of pancreatic NMDARs. Since neurons and pancreatic islets have many features in common, we hypothesiz...

hrp0094p2-90 | Bone, growth plate and mineral metabolism | ESPE2021

Changing reality: rebirth of old diseases in new circumstances. Severe vitamin D deficiency presenting as hypocalcemic seizures in a healthy adolescent after prolonged COVID-19 lock-down.

Naugolny Larissa , Rachmiel Marianna , Weintrob Naomi ,

Context: Nutritional vitamin D deficiency is rare in the high income countries; its manifestations are usually associated with the combination of accompanying risk factors, as malnutrition, chronic illness, dark skin or restricted exposure to sunlight due to cultural practices.Objective: The aim of this case report is to increase the awareness to severe vitamin D deficiency as a result of extreme indoor isolation due to ...

hrp0097p2-53 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Case report of an 18-month child with profound osteopenia, hypotonia, respiratory distress and RSV bronchiolitis, on a background of vitamin D dependent rickets type 1 (VDDRI): Acute management and 6 months follow-up.

Statha Eleni , Paltoglou George , Doulgeraki Artemis , Vakali Eleni , Vlachopapadopoulou Elpis , Economou Stavroula , Sakou Irini-Ikbale , Soldatou Alexandra , Karavanaki Kyriaki , Frysira Elena

Aim: Case report of an 18-month-old child with a background of vitamin D dependent rickets type 1(VDDR1)], due to a mutation of CYP27B1 (c.1319_1325dup and c.335C>T: compound heterozygote).Methods: Presentation of the case and the management of hypocalcemia as well as the complications of follow-up.Results: The patient presented at the A&Es of the 2nd Department of Pediatric...