Article
Endocrinology & Metabolism
Erik A. Imel, Francis H. Glorieux, Michael P. Whyte, Anthony A. Portale, Craig F. Munns, Ola Nilsson, Jill H. Simmons, Raja Padidela, Noriyuki Namba, Hae Il Cheong, Pisit Pitukcheewanont, Etienne Sochett, Wolfgang Hoegler, Koji Muroya, Hiroyuki Tanaka, Gary S. Gottesman, Andrew Biggin, Farzana Perwad, Angel Chen, Mary Scott Roberts, Leanne M. Ward
Summary: In this study, burosumab was found to improve rickets in children with X-linked hypophosphatemia (XLH) compared to conventional therapy with active vitamin D and phosphate. The analysis showed that the response to treatment did not differ when switching to burosumab, regardless of prior phosphate or active vitamin D doses.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Cell Biology
Luz M. Acevedo, Angela Vidal, Escolastico Aguilera-Tejero, Jose-Luis L. Rivero
Summary: This literature review discusses the association between skeletal muscle plasticity and renal dysfunction and obesity, as well as the influence of a nontraditional axis involving kidney, bone, and muscle on skeletal muscle plasticity.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2023)
Review
Endocrinology & Metabolism
Michael R. Laurent, Jean De Schepper, Dominique Trouet, Nathalie Godefroid, Emese Boros, Claudine Heinrichs, Bert Bravenboer, Brigitte Velkeniers, Johan Lammens, Pol Harvengt, Etienne Cavalier, Jean-Francois Kaux, Jacques Lombet, Kathleen De Waele, Charlotte Verroken, Koenraad van Hoeck, Geert R. Mortier, Elena Levtchenko, Johan Vande Walle
Summary: X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia, caused by mutations in the PHEX gene leading to elevated levels of FGF23 hormone. Belgian experts convened to discuss translating international best evidence into locally feasible recommendations to improve diagnostic and therapeutic landscape for XLH patients in Belgium.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Agnieszka Bialka-Kosiec, Dominika Orszulak, Aneta Gawlik, Agnieszka Drosdzol-Cop
Summary: Polycystic ovary syndrome is an endocrine disorder that primarily affects adolescent girls and young women. The role of vitamin D deficiency in the development of PCOS has been investigated. This study aimed to assess the levels of vitamin D, hormones, and adipokines in girls diagnosed with PCOS. The results showed that the vitamin D level was lower in the PCOS group, but the difference was not statistically significant.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Oscar D. Pons-Belda, M. Agustina Alonso-Alvarez, Juan David Gonzalez-Rodriguez, Laura Mantecon-Fernandez, Fernando Santos-Rodriguez
Summary: FGF23 was identified as circulating phosphatonin in human pathology and plays a pathogenic role in various diseases. However, its metabolism in children is largely unknown. This review focuses on the metabolism of FGF23 in pediatric age and its relationship with vitamin D metabolism.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Endocrinology & Metabolism
Pablo Florenzano, Iris R. Hartley, Macarena Jimenez, Kelly Roszko, Rachel I. Gafni, Michael T. Collins
Summary: Tumor-induced osteomalacia is a rare paraneoplastic syndrome caused by tumoral production of FGF23, characterized by hypophosphatemia, abnormal vitamin D levels, and elevated FGF23. Treatment includes surgical resection, medical therapy, and novel approaches, but locating the tumor can be challenging.
CALCIFIED TISSUE INTERNATIONAL
(2021)
Article
Endocrinology & Metabolism
Charles Ginsberg, Andrew N. Hoofnagle, Ronit Katz, Jan Hughes-Austin, Lindsay M. Miller, Jessica O. Becker, Stephen B. Kritchevsky, Michael G. Shlipak, Mark J. Sarnak, Joachim H. Ix
Summary: Among a diverse cohort of community-dwelling older adults, a lower VMR was more strongly associated with both loss of bone mineral density (BMD) and fracture risk compared with 25(OH)D-3. Further trials are needed to evaluate the VMR as a therapeutic target in individuals at risk for worsening BMD and fracture.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Article
Medical Laboratory Technology
Marie-Eva Pickering, Damien Bouvier, Antoine Puravet, Martin Soubrier, Vincent Sapin, Charlotte Oris
Summary: This case report describes a rare case of hypophosphatemic osteomalacia associated with pancreatic cancer, highlighting the importance of plasma FGF23 measurement in patients with hypophosphatemia, renal phosphate wasting, and low calcitriol level.
CLINICAL BIOCHEMISTRY
(2022)
Review
Genetics & Heredity
Claudia Maria Jurca, Oana Iuhas, Kinga Kozma, Codruta Diana Petchesi, Dana Carmen Zaha, Marius Bembea, Sanziana Jurca, Corina Paul, Alexandru Daniel Jurca
Summary: X-linked hypophosphatemia is a genetic disorder characterized by a gene mutation that inactivates the degradation of FGF23, leading to decreased tubular reabsorption of phosphorus. Symptoms include growth delay and bone pain. Treatment with Burosumab has shown positive results in improving the condition of patients.
Article
Endocrinology & Metabolism
Rafi Brener, Leonid Zeitlin, Yael Lebenthal, Avivit Brener
Summary: This prospective case-control study explored the effect of burosumab, an anti-FGF23 antibody, on dental health of children with X-linked hypophosphatemia (XLH). One year of treatment led to improvement of height and healing of rickets in XLH patients, and those achievements were maintained after three years of treatment. Dental morphology of XLH patients showed increased pulp coronal ratios compared to controls, and did not attain the decrease expected with age after three years of treatment. Some patients experienced recurrent dental abscesses during the treatment.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Anne Gladding, Vivian Szymczuk, Bethany A. Auble, Alison M. Boyce
Summary: This study reports the first case of a 7-year-old boy with FD/MAS treated with burosumab. The patient achieved normalization of serum phosphorus, marked improvement in alkaline phosphatase levels, and showed encouraging clinical response without any observed adverse effects. Future studies are needed to further explore the safety and efficacy of burosumab in the pediatric population with FD/MAS.
Article
Endocrinology & Metabolism
Benedikt Schaefer, Heinz Zoller, Myles Wolf
Summary: This study found that treatment with FCM was the only consistent risk factor for hypophosphatemia. Patients who developed severe or persistent hypophosphatemia after FCM treatment had more severe derangements in bone and mineral metabolism. Changes in bone biomarkers continued beyond resolution of hypophosphatemia, indicating ongoing effects on bone that may explain the association of FCM with osteomalacia and fractures.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Geriatrics & Gerontology
Lisa Ceglia, Anastassios G. Pittas, Bess Dawson-Hughes
Summary: This study investigated the effect of 4000 IU/day of vitamin D-3 supplementation on blood fibroblast growth factor-23 (FGF23) levels. The results showed that vitamin D-3 supplementation did not significantly alter FGF23 levels in obese older adults.
AGING CLINICAL AND EXPERIMENTAL RESEARCH
(2023)
Article
Rheumatology
Justine Bacchetta, Anya Rothenbuhler, Iva Gueorguieva, Peter Kamenicky, Jean-Pierre Salles, Karine Briot, Agnes Linglart
Summary: Hereditary hypophosphatemia with increased FGF23 levels is a rare inherited metabolic disease characterized by low serum phosphate levels. Treatment options include oral phosphate supplementation with active vitamin D analogs or the recently approved anti-FGF23 drug burosumab.
Article
Endocrinology & Metabolism
Thomas J. Weber, Erik A. Imel, Thomas O. Carpenter, Munro Peacock, Anthony A. Portale, Joel Hetzer, J. Lawrence Merritt, Karl Insogna
Summary: The study aimed to evaluate the safety, immunogenicity, and clinical response of long-term burosumab treatment in adult XLH patients. Results showed improvements in fasting serum phosphate levels, bone turnover markers, and patient-reported outcomes, supporting burosumab as a safe and effective long-term treatment option for XLH patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Multidisciplinary Sciences
Yuichi Takashi, Hidetaka Kosako, Shun Sawatsubashi, Yuka Kinoshita, Nobuaki Ito, Maria K. Tsoumpra, Masaomi Nangaku, Masahiro Abe, Munehide Matsuhisa, Shigeaki Kato, Toshio Matsumoto, Seiji Fukumoto
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2019)
Review
Medicine, General & Internal
Maria K. Tsoumpra, Seiji Fukumoto, Toshio Matsumoto, Shin'ichi Takeda, Matthew J. A. Wood, Yoshitsugu Aoki
Review
Endocrinology & Metabolism
Chang Liu, Zhen Zhao, Ou Wang, Mei Li, Xiaoping Xing, Evelyn Hsieh, Seiji Fukumoto, Yan Jiang, Weibo Xia
CALCIFIED TISSUE INTERNATIONAL
(2019)
Article
Endocrinology & Metabolism
Yuichi Takashi, Shu Wakino, Hitoshi Minakuchi, Masashi Ishizu, Akio Kuroda, Hisato Shima, Manabu Tashiro, Keiko Miya, Kazuyoshi Okada, Jun Minakuchi, Shu Kawashima, Munehide Matsuhisa, Toshio Matsumoto, Seiji Fukumoto
JOURNAL OF BONE AND MINERAL METABOLISM
(2020)
Review
Endocrinology & Metabolism
Seiji Fukumoto, Yuichi Takashi, Maria K. Tsoumpra, Shun Sawatsubashi, Toshio Matsumoto
JOURNAL OF BONE AND MINERAL METABOLISM
(2020)
Article
Endocrinology & Metabolism
Seiji Fukumoto, Satoshi Soen, Tetsuya Taguchi, Takashi Ishikawa, Hisashi Matsushima, Masakazu Terauchi, Shigeo Horie, Toshiyuki Yoneda, Toshitsugu Sugimoto, Toshio Matsumoto
JOURNAL OF BONE AND MINERAL METABOLISM
(2020)
Article
Medicine, General & Internal
Takuo Kubota, Seiji Fukumoto, Hae Il Cheong, Toshimi Michigami, Noriyuki Namba, Nobuaki Ito, Shin Tokunaga, Yoshimi Gibbs, Keiichi Ozono
Article
Endocrinology & Metabolism
Yasuo Imanishi, Nobuaki Ito, Yumie Rhee, Yasuhiro Takeuchi, Chan Soo Shin, Yutaka Takahashi, Hiroki Onuma, Masahiro Kojima, Masanori Kanematsu, Hironori Kanda, Yoshiki Seino, Seiji Fukumoto
Summary: Burosumab (KRN23) shows promising efficacy and tolerability in patients with TIO, effectively increasing serum phosphate levels, improving bone metabolism and pain, especially beneficial for patients who are not eligible for tumor resection.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Article
Endocrinology & Metabolism
Hajime Kato, Minae Koga, Yuka Kinoshita, Yuki Taniguchi, Hiroshi Kobayashi, Seiji Fukumoto, Masaomi Nangaku, Noriko Makita, Nobuaki Ito
Summary: This study revealed a high prevalence and severity of ectopic ossification, hip/knee osteophytes, nephrocalcinosis, and hearing impairment in adults with XLH. Enthesopathy in the Achilles tendon was also common. Undiagnosed XLH should be considered in cases with severe spinal ligament ossification or noticeable osteophytes around the hip/knee joints.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Review
Endocrinology & Metabolism
Yuichi Takashi, Daiji Kawanami, Seiji Fukumoto
Summary: This review discussed the pathogenesis of X-linked hypophosphatemia and tumor-induced osteomalacia, as well as the new treatment strategy involving the use of an anti-FGF23 monoclonal antibody, burosumab. Inhibition of excessive FGF23 activity has been approved as a new therapy for these hypophosphatemic diseases, but further studies are needed to determine the long-term effects and safety of burosumab.
CURRENT OSTEOPOROSIS REPORTS
(2021)
Review
Endocrinology & Metabolism
Janice L. Pasieka, Kelly Wentworth, Caitlin T. Yeo, Serge Cremers, David Dempster, Seiji Fukumoto, Ravinder Goswami, Pascal Houillier, Michael A. Levine, Jesse D. Pasternak, Nancy D. Perrier, Antonio Sitges-Serra, Dolores M. Shoback
Summary: This article utilized a systematic review to investigate the etiologies and pathogenesis of hypoparathyroidism, with a particular focus on new knowledge about parathyroid gland viability and intraoperative parathyroid hormone monitoring. Non-surgical factors, especially genetic factors, play a significant role in hypoparathyroidism. Due to the widespread impact of PTH deficiency on multiple organ systems, the article provides a detailed review of skeletal, renal, neuromuscular, and ocular complications. The burden of illness on patients and their caregivers leads to reduced quality of life and increased social costs for this chronic endocrinopathy.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Review
Endocrinology & Metabolism
Salvatore Minisola, Seiji Fukumoto, Weibo Xia, Alessandro Corsi, Luciano Colangelo, Alfredo Scillitani, Jessica Pepe, Cristiana Cipriani, Rajesh Thakker
Summary: Tumor-induced osteomalacia is a rare paraneoplastic syndrome characterized by bone softening and various symptoms. It is often underdiagnosed due to nonspecific symptoms. Biochemical features include hypophosphatemia, abnormal FGF23 levels, and abnormal vitamin D levels. The underlying tumors are usually phosphaturic mesenchymal tumors.
Article
Endocrinology & Metabolism
Hajime Kato, Rena Okawa, Toru Ogasawara, Yoshitomo Hoshino, Naoko Hidaka, Minae Koga, Yuka Kinoshita, Hiroshi Kobayashi, Yuki Taniguchi, Seiji Fukumoto, Masaomi Nangaku, Noriko Makita, Kazuto Hoshi, Kazuhiko Nakano, Nobuaki Ito
Summary: This study compared dental complications and ectopic ossifications among adult patients with XLH with early and late conventional treatment. The results showed that early treatment could prevent dental complications but did not prevent ectopic ossification in adult patients with XLH.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Yuka Kinoshita, Yuichi Takashi, Nobuaki Ito, Shiro Ikegawa, Hiroyuki Mano, Tetsuo Ushiku, Masashi Fukayama, Masaomi Nangaku, Seiji Fukumoto
Article
Biochemistry & Molecular Biology
Yuichi Takashi, Shun Sawatsubashi, Itsuro Endo, Yukiyo Ohnishi, Masahiro Abe, Munehide Matsuhisa, Daiji Kawanami, Toshio Matsumoto, Seiji Fukumoto
Summary: The study demonstrates the significance of FGFR1 signaling in regulating FGF23 production and serum phosphate level in vivo. Knockout of Fgfr1 leads to increased hyperphosphatemia, body weight loss, and shorter lifespan in mice, highlighting the role of FGFR1 in phosphate metabolism and normal lifespan.
BIOCHEMISTRY AND BIOPHYSICS REPORTS
(2021)
