Article
Endocrinology & Metabolism
Agnes Linglart, Erik A. Imel, Michael P. Whyte, Anthony A. Portale, Wolfgang Hogler, Annemieke M. Boot, Raja Padidela, William Van't Hoff, Gary S. Gottesman, Angel Chen, Alison Skrinar, Mary Scott Roberts, Thomas O. Carpenter
Summary: In children with XLH, treatment with burosumab for 160 weeks improved phosphate homeostasis, reduced rickets severity, and showed good tolerability.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Cell Biology
Peihong Liu, Jiaxuan Li, Linghao Tang, Wei Cong, Han Jin, Hong Zhang, Bing Cui, Shan Yang, Jing Xiao, Chao Liu, Wuliji Saiyin
Summary: This study reveals that mutations in FAM20C primarily cause hypophosphatemia rickets or osteomalacia, and the skeletal manifestation of Rainne syndrome is influenced by other factors.
JOURNAL OF CELLULAR PHYSIOLOGY
(2023)
Review
Endocrinology & Metabolism
Peter J. Tebben
Summary: Phosphate plays critical and diverse roles in human physiology, including skeletal mineralization, energy homeostasis, enzyme function, and cell membrane integrity. It is regulated by multiple systems including the gastrointestinal tract, bones, and kidneys. This review discusses normal phosphate homeostasis, the clinical manifestations and causes of hypophosphatemia, as well as the approach to diagnosis and appropriate management.
ENDOCRINE PRACTICE
(2022)
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
Pediatrics
Basudev Biswal, Aparna Aradhana, Mamata Devi Mohanty, Jasashree Choudhury, Braja Kishore Behera, Subhasree Beura
Summary: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by certain mesenchymal tumors overproducing fibroblast growth factor-23 (FGF-23) in adults. In children, these phosphaturic mesenchymal tumors result in rickets-like symptoms similar to TIO. The condition is characterized by high levels of FGF-23, low phosphate, low or normal active vitamin D, and high alkaline phosphatase. Surgical removal of the tumor is curative, but medical treatment with phosphate and active vitamin D is successful in improving symptoms when surgery is not possible.
INDIAN JOURNAL OF PEDIATRICS
(2023)
Article
Endocrinology & Metabolism
Kittrawee Kritmetapak, Rajiv Kumar
Summary: This review summarizes the current knowledge about phosphate homeostasis, phosphatonin pathophysiology, and the clinical implications of FGF23-related hypophosphatemic disorders, with specific focus on burosumab treatment. Research suggests that burosumab is effective and safe for pediatric and adult patients with X-linked hypophosphatemia or tumor-induced osteomalacia.
ENDOCRINE PRACTICE
(2023)
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.
Review
Endocrinology & Metabolism
Ariadne Bosman, Andrea Palermo, Julien Vanderhulst, Suzanne M. Jan De Beur, Seiji Fukumoto, Salvatore Minisola, Weibo Xia, Jean-Jacques Body, M. Carola Zillikens
Summary: Tumor-induced osteomalacia (TIO) is a rare and often underestimated paraneoplastic condition. This study systematically reviewed published cases of TIO and found that hypophosphatemia and low or normal serum vitamin D levels are characteristic features. Diagnostic delay for TIO is often longer than 2 years, and clinical manifestations include skeletal involvement and fractures. Understanding the importance of TIO can help reduce diagnostic delay and its clinical consequences.
CALCIFIED TISSUE INTERNATIONAL
(2022)
Article
Endocrinology & Metabolism
Sarah A. Ackah, Erik A. Imel
Summary: Hypophosphatemic rickets presents in infancy or early childhood with skeletal deformities and growth plate abnormalities. Evaluation should include a thorough assessment of medical history, physical examination, laboratory investigations, genetic analysis, and imaging. Treatment options depend on the underlying cause, with common approaches including active forms of vitamin D combined with phosphate salts or anti-FGF23 antibody treatment.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Fahad Aljuraibah, Justine Bacchetta, Maria Luisa Brandi, Pablo Florenzano, Muhammad K. Javaid, Outimaija Makitie, Adalbert Raimann, Mariano Rodriguez, Heide Siggelkow, Dov Tiosano, Marc Vervloet, Carsten A. Wagner
Summary: Chronic hypophosphatemia, characterized by low phosphate levels, can lead to underrecognition and poor clinical outcomes. Understanding phosphate homeostasis and early diagnosis are crucial for optimal management and improved health outcomes.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Endocrinology & Metabolism
Naoko Hidaka, Minae Koga, Soichiro Kimura, Yoshitomo Hoshino, Hajime Kato, Yuka Kinoshita, Noriko Makita, Masaomi Nangaku, Kazuhiko Horiguchi, Yasushi Furukawa, Keizo Ohnaka, Kenichi Inagaki, Atsushi Nakagawa, Atsushi Suzuki, Yasuhiro Takeuchi, Seiji Fukumoto, Fumihiko Nakatani, Nobuaki Ito
Summary: This study conducted a retrospective survey among physicians to investigate tumor-induced osteomalacia (TIO) patients. The results revealed issues of diagnostic delay and the need for improved techniques to localize phosphaturic mesenchymal tumors (PMTs). Surgical intervention and pharmaceutical treatments were effective options for TIO.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Review
Endocrinology & Metabolism
Maria Luisa Brandi, Gavin P. R. Clunie, Pascal Houillier, Suzanne M. Jan de Beur, Salvatore Minisola, Ralf Oheim, Lothar Seefried
Summary: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic disease caused by excess secretion of FGF23, resulting in hypophosphatemia and ultimately osteomalacia. Diagnosis is often delayed due to non-specific symptoms, and complete excision of the tumor is curative in most cases, leading to a dramatic reversal of symptoms. However, there are unmet needs in terms of optimizing management, including delays in diagnosis and alternative treatment options.
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
Pediatrics
Dieter Haffner, Maren Leifheit-Nestler, Andrea Grund, Dirk Schnabel
Summary: Rickets is a disease in growing children caused by disruptions in calcium and phosphate metabolism, leading to impaired apoptosis of hypertrophic chondrocytes in the growth plate. Diagnosis is based on clinical symptoms, X-ray findings, and elevated serum alkaline phosphatase levels, with the most common cause being nutritional deficiencies. Treatment approaches are guided by clinical practice guidelines.
PEDIATRIC NEPHROLOGY
(2022)
Article
Endocrinology & Metabolism
Eeva M. Ryhanen, Camilla Schalin-Jantti, Niina Matikainen
Summary: This case highlights the challenges in diagnosing rare causes of low bone mass and fragility fractures, particularly TIO. Surgical recovery from TIO-induced hypophosphatemia requires special attention, with potential complications such as prolonged muscle weakness and the need for ventilation support. Proactive perioperative correction of hypophosphatemia is crucial for successful postsurgical recovery.
FRONTIERS IN ENDOCRINOLOGY
(2021)
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)