Debilitating pain and fractures: A rare case of Hypophosphatemic Osteomalacia with Concomitant vitamin D Deficiency in Neurofibromatosis Type 1 / Journal of the ASEAN Federation of Endocrine Societies
Journal of the ASEAN Federation of Endocrine Societies
;
: 105-108, 2020.
Artigo
em Inglês
| WPRIM
| ID: wpr-961902
ABSTRACT
@#Hypophosphatemic osteomalacia is a rare form of metabolic bone disorder in neurofibromatosis type 1 (NF1). The exact disease mechanism of this disorder in NF1 is yet to be established. We present a 44-year-old female known to have NF1, who presents with debilitating bone pain, weakness and multiple fractures. Laboratory investigations showed persistent hypophosphatemia with renal phosphate wasting suggestive of hypophosphatemic osteomalacia. She also had concomitant vitamin D deficiency which contributed to the disease severity. Medical therapy with oral phosphate and vitamin D improved her symptoms without significant changes in fracture healing or phosphate levels.
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Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteomalacia
/
Deficiência de Vitamina D
/
Hipofosfatemia
Idioma:
Inglês
Revista:
Journal of the ASEAN Federation of Endocrine Societies
Ano de publicação:
2020
Tipo de documento:
Artigo
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