Saroj Kumar Sahoo1, Priyanka Kushwaha2, Niharika Bharti3, Vikram Khedgikar2, Ritu Trivedi2, Vinita Agrawal3, Naseer Ahmad2, Ghazala Zaidi1, Lily Pal3, Nobuaki Ito4, Eesh Bhatia5. 1. Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. 2. Division of Endocrinology, Central Drug Research Institute, Lucknow, India. 3. Department of Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. 4. Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan. 5. Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Electronic address: ebhatia@sgpgi.ac.in.
Abstract
CONTEXT: The mechanism behind hypophosphatemia in the setting of neurofibromatosis type 1 (NF1) is not known. We describe a possible role of fibroblast growth factor-23 (FGF23) in the pathophysiology of hypophosphatemia in a patient with NF1. CASE DESCRIPTION: A 34-year woman with NF1 presented with severe hypophosphatemia, osteomalacia, and elevated plasma FGF23. The patient had considerable improvement on replacement of oral phosphate. Two Ga68 DOTANOC PET-CT scans over a period of 2 years failed to detect any localized uptake. Immuno-staining for FGF23 was absent in the neural-derived tumour cells of the neurofibromas in the proband. CONCLUSION: The patient with NF1 had elevated circulating FGF23. Tumour cells in the neurofibroma tissues did not stain for FGF23 on IHC. It is unlikely for neurofibromas to contribute to high circulating FGF23 levels in the proband.
CONTEXT: The mechanism behind hypophosphatemia in the setting of neurofibromatosis type 1 (NF1) is not known. We describe a possible role of fibroblast growth factor-23 (FGF23) in the pathophysiology of hypophosphatemia in a patient with NF1. CASE DESCRIPTION: A 34-year woman with NF1 presented with severe hypophosphatemia, osteomalacia, and elevated plasma FGF23. The patient had considerable improvement on replacement of oral phosphate. Two Ga68 DOTANOC PET-CT scans over a period of 2 years failed to detect any localized uptake. Immuno-staining for FGF23 was absent in the neural-derived tumour cells of the neurofibromas in the proband. CONCLUSION: The patient with NF1 had elevated circulating FGF23. Tumour cells in the neurofibroma tissues did not stain for FGF23 on IHC. It is unlikely for neurofibromas to contribute to high circulating FGF23 levels in the proband.
Authors: Angelos Kaspiris; Elias Vasiliadis; Dimitra Melissaridou; Ilias D Iliopoulos; Panayiotis J Papagelopoulos; Olga D Savvidou Journal: J Orthop Case Rep Date: 2022-02
Authors: Angelos Kaspiris; Olga D Savvidou; Elias S Vasiliadis; Argyris C Hadjimichael; Dimitra Melissaridou; Stella Iliopoulou-Kosmadaki; Ilias D Iliopoulos; Evangelia Papadimitriou; Efstathios Chronopoulos Journal: J Clin Med Date: 2022-01-15 Impact factor: 4.241