9324 X-Linked Hypophosphatemic Rickets (XLH): Experience Argentina

Abstract Disclosure: E. Giacoia: Research Investigator; Self; Ultragenyx. A.C. Cantó: Research Investigator; Self; Ultragenyx. M.C. Balonga: Research Investigator; Self; Ultragenyx. Introduction: XLH is a genetic disease characterized by rickets and osteomalacia caused by pathogenic variants in PHEX with disruptions in bone mineral homeostasis. In adults, the deformities described in childhood persist, in addition to osteomalacia, pain, stiffness, enthesopathies, arthrosis, delayed fracture consolidation and hypoacusia1,2.Objective: To describe the clinical, biochemical characteristics and complications such as kidney stones, hypoacusia, enthesopathy and type of mutation (isolated or familiar).Materials and methods: Descriptive and analytical study. 10 patients diagnosed with XLH were analyzed and evaluated from January to December 2023. Laboratory samples and complementary studies were carried out. The PHEX gene mutation was searched. Informed consents were obtained. Results: P: Phosphate, Ca: Calcium, 25OHD: Vitamin D3/10 patients had kidney stones, 4/10 hypoacusia, 4/10 enthesopathies.3/10 were de novo mutations and rest were familial.Conclusions: We observed a tendency towards hypophosphatemia and slightly increased PTH values. We consider that the experience acquired through follow-up consultations is the best tool to advance medical knowledge and thus achieve early diagnosis, access to medical treatment and multidisciplinary teamwork for improving the quality and survival of life of patients with this rare disease. Reference: (1) Juan Guillermo Cardenas-Aguilera et al. Expert Consensus on evidence-based recommedations for the diagnosis, treatment, and follow-up of X-linked hypophosfatemic rickets (XLH). Revista colombiana de nefrología, vol 11, number 1, marzo 20242. Andrea Trombetti et al. Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia. Nat Rev Endocrinol. 2022 Jun;18(6):366-384. Presentation: 6/1/2024