ESPE Abstracts

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...

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 ...

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...

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...

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...

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...

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...

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...

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 ...

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...