ESPE Abstracts

Background: Hereditary hypophosphatemic rickets (HHR) comprises a group of rare disorders characterized by renal phosphate wasting and impaired vitamin D metabolism. Numerous genetic defects can underlie this condition, with the X-linked dominant form (XLHR) being the most prevalent (1 in 20,000 individuals) resulting from inactivating variants in the PHEX gene.Aim: To characterize a large cohort of 99 argentini...

Reports on preterm born young adults’ bone health give conflicting results. Lower areal bone mineral density in the preterm born population has partly been explained by their smaller adult size. Male sex has previously been reported as a risk factor for impaired bone health in preterm born adults. We performed a bone mineral density measurement of the lumbar spine and both hips with DXA in 37 preterm born young adults, of whom 22 were women and 15 men, at a mean age of 2...

Introduction: Neonatal severe hyperparathyroidism (NSHPT) is a life-threatening disease characterized by hypercalcemia and bone demineralization due to homozygous or compound heterozygous loss-of-function mutations in the calcium-sensing receptor (CaSR) gene. Most cases require emergency parathyroidectomy to be life-saving. Alternative treatments, such as pamidronate and cinacalcet, may be used until surgery is feasible. We present a case of severe hypercalcem...

Background: Acute lymphoblastic leukemia (ALL) is the most frequently reported cancer in paediatrics. Reduced bone mineral density (BMD) and increased risk of fractures have been well-documented in this population, but long-term longitudinal trendlines of BMD and data about the impact of bone turnover markers are still scarce. Additionally, changes in body composition have to be furtherly analysed among childhood ALL survivors.St...

Introduction: ADH1 is caused by Calcium Sensing Receptor (CaSR) gain of function (GoF) variants, leading to hypoparathyroidism, hypocalcaemia, seizures, hyperphosphatemia, hypomagnesaemia and severe hypercalciuria. Conventional treatment (Alphacalcidol, Calcium) predisposes to nephrocalcinosis and renal impairment and may not reduce seizures. We previously reported that CSPI by insulin pump effectively increased serum calcium concentrations and reduced seizure...

Background: Data on FGF23-related Hypophosphatemic rickets (HR)/osteomalacia in GCC are sparse. This observational registry aims to collect data on the treatment, disease burden, progression, and long-term outcomes among patients with FGF23-related HR/osteomalacia in GCC, effectiveness and safety of treatments, quality of life and healthcare resource utilization.Methods: This multicenter registry aims to enroll 200 patie...

Introduction: PKDCC gene mutation was first described in 2017, with ten patients described in the literature to date. It is associated with rhizomelic skeletal dysplasia, short stature, characteristic facial features of flat high forehead, hypertelorism, micrognathia and in some cases hearing loss. The clinical phenotype is expanding as confirmed cases emerge.Case Description: We present two brothers born to non-consangu...

Background and aims: Insight into which determinants associate with bone mineral density (BMD) is needed for targeted therapy in children with a low BMD for chronological age but also for preventive treatment on population level. Currently, studies investigating determinants of BMD in children aged <4 years are scarce. The primary aim of our study was to assess which determinants associate with BMD total body less head (BMDTBLH) at around age 6 m...

Background: Accurate diagnosis of disorders such as X-linked hypophosphatemia (XLH, OMIM 307800) and hypophosphatasia (HPP, OMIM 241510) critically depends on the use of appropriate pediatric reference ranges for serum phosphate and total alkaline phosphatase (ALP) values. However, many medical laboratories fail to implement these pediatric reference ranges, leading to missed diagnoses and delayed treatment. In Austria, as in many other countries, there are no...

Objectives: Lower limb deformities are a significant burden for patients with rickets and related disorders. However, there is limited structured data on this important symptom in hypophosphatemic and hypocalcemic conditions. This review aims to present the available data and identify gaps in the literature regarding lower limb deformities in patients with hypophosphatemic rickets (HPR) such as XLH and hypocalcemic types of rickets (HCR).<p class="abstext"...