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Abstract 19: A case of fragility fractures due to hypophosphatemic osteomalacia and adult Fanconi syndrome

Background: Fanconi syndrome is attributed with renal proximal tubular dysfunction leading to the wasting of phosphate, amino acids, glucose, and bicarbonate. This result in hypophosphatemic osteomalacia and fragility fractures. Case Presentation: A 38-year-old male presented with increasing bony pa...

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Detalles Bibliográficos
Autores principales: Delampady, Kishan, Ganesh, H K, Rohan, R G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067758/
http://dx.doi.org/10.4103/2230-8210.342133
Descripción
Sumario:Background: Fanconi syndrome is attributed with renal proximal tubular dysfunction leading to the wasting of phosphate, amino acids, glucose, and bicarbonate. This result in hypophosphatemic osteomalacia and fragility fractures. Case Presentation: A 38-year-old male presented with increasing bony pains, proximal muscle weakness and fragility fractures of long bones. On evaluation he was detected to have hypophosphatemia, hypokalaemia, metabolic acidosis with normal anion gap, renal phosphate wasting with low with TMP/GFR. His serum parathormone, 25 hydroxyvitamin D, 1, 25- dihydroxyvitamin D, fibroblast growth factor 23 (FGF-23) levels were normal. Serum Protein Electrophoresis was normal. X-Ray showed loozers zone and fractures. He was treated with oral supplements of calcium, bicarbonate, calcitriol and phosphate. After treatment patient's fractures were healed, he regained muscle strength and was able to ambulate with support. Conclusion: This case describes presentation of pathological fractures due to type 2 (proximal) renal tubular acidosis with Hypophosphatemic osteomalacia.