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.
Review
Endocrinology & Metabolism
Farouk Bouraima, Vincent Sapin, Samy Kahouadji, Marie-Eva Pickering, Bruno Pereira, Damien Bouvier, Charlotte Oris
Summary: This study provides a detailed description of the clinical and biological characteristics of malignant tumor-induced osteomalacia (TIO) due to fibroblast growth factor 23 (FGF23) overexpression. It highlights the importance of measuring FGF23 blood levels in the diagnostic workup, prognostication, and follow-up of patients with TIO.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(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)
Review
Endocrinology & Metabolism
Luisella Cianferotti, Chiara Delli Poggi, Francesco Bertoldo, Carla Caffarelli, Chiara Crotti, Davide Gatti, Sandro Giannini, Stefano Gonnelli, Maurizio Mazzantini, Viapiana Ombretta, Stefania Sella, Angela Setti, Massimo Varenna, Francesca Zucchi, Maria Luisa Brandi
Summary: Tumor-induced osteomalacia is a rare mineral metabolism disorder characterized by hypophosphatemia. This study found that a significant number of TIO patients remain undiagnosed or persist after surgery, making them potential candidates for burosumab treatment.
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)
Article
Endocrinology & Metabolism
Jeffrey Sugarman, Ann Maruri, Dale J. Hamilton, Laila Tabatabai, Diana Luca, Tricia Cimms, Stan Krolczyk, Mary Scott Roberts, Thomas O. Carpenter
Summary: Cutaneous skeletal hypophosphatemia syndrome is a rare disorder characterized by skeletal dysplasia and FGF23-mediated hypophosphatemia. Treatment options currently include oral phosphorus and active vitamin D analogs. However, recent studies suggest that burosumab, a fully human monoclonal antibody against FGF23, shows promising results in improving disease outcomes.
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
Pediatrics
Yijiang Han, Shuqi Hu, Baohai Chen, Shoujiang Huang, Qi Qin, Jinfa Tou
Summary: Meconium peritonitis combined with intestinal atresia is a rare neonatal condition and it is even rarer when combined with biliary atresia. In such cases, biliary atresia should be suspected.
FRONTIERS IN PEDIATRICS
(2022)
Review
Endocrinology & Metabolism
Tatiane Vilaca, Nalini Velmurugan, Christopher Smith, Bo Abrahamsen, Richard Eastell
Summary: Randomized control trials have shown that repeated iron infusions can lead to prolonged hypophosphatemia and osteomalacia. Case reports have found that pain, fractures, or pseudofractures are common clinical findings in patients receiving iron infusions.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Cell Biology
Giulia Jannone, Eliano Bonaccorsi Riani, Catherine de Magnee, Roberto Tambucci, Jonathan Evraerts, Joachim Ravau, Pamela Baldin, Caroline Bouzin, Axelle Loriot, Laurent Gatto, Anabelle Decottignies, Mustapha Najimi, Etienne Marc Sokal
Summary: Premature senescence occurs in patients with biliary atresia, leading to liver dysfunction. Treatment with liver-derived progenitor cells can reduce senescence and improve liver disease.
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
Environmental Sciences
Mirja Moehn, Julia Camilla Bulski, Norbert Kraemer, Alexander Rahman, Nelly Schulz-Weidner
Summary: Amelogenesis imperfecta is a genetic condition that interrupts enamel formation, leading to various treatment options to protect the function and appearance of the masticatory system. This case report highlights the oral rehabilitation from mixed to permanent dentition, emphasizing the importance of different treatment methods and the challenges in the treatment process.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2021)
Article
Medicine, General & Internal
Yasuo Horinouchi, Seiji Shiota, Ryo Kaimori, Katsuhiko Yoshimura, Rie Utsunomiya-Nishimizu, Kyoko Yamamoto, Eishi Miyazaki
Summary: Tumor-induced osteomalacia (TIO) is a rare disease that is often misdiagnosed. It can be diagnosed through blood tests and tumor localization. One of the current treatment methods for TIO is the use of monoclonal antibodies against FGF23.
INTERNATIONAL MEDICAL CASE REPORTS JOURNAL
(2023)
Review
Pediatrics
Jia-Jie Zhu, Yi-Fan Yang, Rui Dong, Shan Zheng
Summary: This study summarizes the role and pathogenic hypothesis of biliatresone in biliary atresia, and proposes a new mechanism of pathogenesis. It emphasizes the involvement of glutathione and heat shock protein 90 in the development of biliary atresia.
WORLD JOURNAL OF PEDIATRICS
(2023)
Review
Endocrinology & Metabolism
Erik Allen Imel
Summary: Great progress has been made in understanding the pathophysiology of hypophosphatemic disorders in recent decades. Phosphate plays a critical role in various physiological processes and its deficiency can have significant effects on multiple systems in the body. Chronic hypophosphatemia mainly affects musculoskeletal function, leading to conditions like rickets, osteomalacia, and impaired growth in children. While congenital factors are the most common cause of chronic hypophosphatemia in children, acquired conditions can also contribute to hypophosphatemia during childhood.
CALCIFIED TISSUE INTERNATIONAL
(2021)
Article
Pharmacology & Pharmacy
Itay Ayalon, Matthew Noble Alder, Travis Ryan Langner, Einar Thor Hafberg, Alexander Gerhard Miethke, Jennifer Melissa Kaplan
AMERICAN JOURNAL OF THERAPEUTICS
(2016)
Editorial Material
Pediatrics
Einar Thor Hafberg
JOURNAL OF PEDIATRICS
(2016)
Editorial Material
Pediatrics
Einar Thor Hafberg
JOURNAL OF PEDIATRICS
(2016)
Editorial Material
Gastroenterology & Hepatology
Einar Hafberg, Jaimie D. Nathan, Andrew T. Trout, Tom K. Lin
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2017)
Article
Pediatrics
Justin Godown, Matt Hall, Bryn Thompson, Cary Thurm, Kathy Jabs, Lynette A. Gillis, Einar T. Hafberg, Sophoclis Alexopoulos, Seth J. Karp, Jonathan H. Soslow
PEDIATRIC TRANSPLANTATION
(2019)
Review
Transplantation
Einar Hafberg, Scott C. Borinstein, Sophoclis P. Alexopoulos
CURRENT OPINION IN ORGAN TRANSPLANTATION
(2019)
Article
Gastroenterology & Hepatology
Sophoclis P. Alexopoulos, Lea Matsuoka, Einar Hafberg, Thomas Morgan, Cary Thurm, Matt Hall, Justin Godown
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2020)
Article
Pediatrics
Amy G. Feldman, Julie A. Parsons, Cullen M. Dutmer, Aravindhan Veerapandiyan, Einar Hafberg, Nolan Maloney, Cara L. Mack
JOURNAL OF PEDIATRICS
(2020)
Article
Surgery
Wei Kelly Wu, Ioannis A. Ziogas, Manhal Izzy, Anita K. Pai, Einar T. Hafberg, Lea K. Matsuoka, Sophoclis P. Alexopoulos
Summary: Congenital hepatic fibrosis (CHF) is a hereditary disease that may require liver and kidney transplantation. Patients undergoing liver transplantation for CHF have good short-term and long-term survival rates, with no significant differences in outcomes between simultaneous liver-kidney and isolated liver transplantation. Half of patients with CHF also require kidney transplantation.
TRANSPLANT INTERNATIONAL
(2021)
Article
Gastroenterology & Hepatology
Ioannis A. Ziogas, W. Kelly Wu, Lea K. Matsuoka, Anita K. Pai, Einar T. Hafberg, Lynette A. Gillis, Thomas M. Morgan, Sophoclis P. Alexopoulos
Summary: Liver transplantation is an effective treatment for children with urea cycle disorders, correcting enzymatic defects and preventing neurologic injury. Factors such as increasing weight, male sex, and specific UCD diagnoses are associated with reduced risk of graft loss, while longer waitlist time and being male increase the odds of long-term cognitive delay. Early evaluation for LT in children with UCDs is recommended to optimize cognitive outcomes and prevent progressive neurologic injury.
LIVER TRANSPLANTATION
(2021)
Article
Gastroenterology & Hepatology
James E. Squires, Jacob Bilhartz, Kyle Soltys, Einar Hafberg, George Mazariegos, Nitika A. Gupta, Ravinder Anand, Sarah G. Anderson, Tamir Miloh
Summary: With advances in surgical techniques and medical management, children who receive a liver transplantation can expect remarkable outcomes early after transplant. However, long-term graft loss and mortality rates have not improved. Despite changes in patient selection and no significant improvement in perioperative complications, significant improvements in graft loss and a trend towards improvement in mortality were observed in a more contemporary cohort of children receiving a liver transplantation.
LIVER TRANSPLANTATION
(2022)
Letter
Surgery
Z. Moazzam, I. A. Ziogas, W. K. Wu, M. A. Rauf, A. K. Pai, E. T. Hafberg, L. A. Gillis, M. Izzy, L. K. Matsuoka, S. P. Alexopoulos
Summary: The study compared waitlist mortality and post-transplant survival between adolescent and adult candidates and recipients of liver transplants for biliary atresia. The results showed that adults had a significantly higher risk of waitlist mortality compared to adolescents, while adolescents exhibited superior patient and graft survival.
BRITISH JOURNAL OF SURGERY
(2021)