Global guidance for the recognition, diagnosis, and management of tumor-induced osteomalacia.

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Abstract

[Indexed for MEDLINE] Conflict of interest statement: Suzanne M. Jan de Beur has received grants from Ultragenyx, Mereo BioPharma (paid to a clinical trial site on which she was the principal investigator) personal fees from Ultragenyx, Amgen, Inozyme Pharma, fees from Ascendis Pharma for serving on advisory boards, and honoraria for lectures from Ultragenyx; she is on the scientific advisory board of the XLH Network Patient Advocacy Group and is past president of the American Society of Bone and Mineral Research. Salvatore Minisola has received royalties or licenses from Abiogen, Kyowa Kirin, Pfizer, and UCB, and payment or honoraria from Amgen, Bruno Farmaceutici, DiaSorin, Eli Lilly, Kyowa Kirin, Sandoz, and Takeda. Wei‐bo Xia has no conflicts of interest to declare. Bo Abrahamsen has received grants from Kyowa Kirin, Novartis, Pharmacosmos, and UCB, speaker fees from Amgen, Eli Lilly, and Pharmacosmos, and consulting fees from Kyowa Kirin and UCB. Jean‐Jacques Body has received consulting and/or speaker fees from Alexion, Amgen, Sandoz, and UCB. Maria Luisa Brandi has received honoraria from Amgen, Bruno Farmaceutici S.p.A., Calcilytix, Kyowa Kirin, and UCB, grants or speaker fees from Abiogen Pharma, Alexion, Amgen, Bruno Farmaceutici S.p.A., Echolight, Eli Lilly and Company, Kyowa Kirin, S.p.A., Theramex, and UCB, and consulting fees from Aboca, Alexion, Amolyt Pharma, Bruno Farmaceutici S.p.A., Calcilytix, Kyowa Kirin, and UCB. Roderick Clifton‐Bligh has received a personal payment from Kyowa Kirin for participation on an advisory board. Michael Collins is supported by the Division of Intramural Research, National Institute of Dental and Craniofacial Research, National Institutes of Health. Pablo Florenzano has received grants from Ultragenyx, consulting fees from Kyowa Kirin, and presentation fees from Ultragenyx. Pascal Houillier has received a grant from Takeda/Sire (payment to an association), consulting fees from Kyowa Kirin and Takeda/Shire, payment or honoraria from Takeda/Shire, and personal fees from Takeda/Shire for advisory boards. Yasuo Imanishi has received payment for lectures from Kyowa Kirin. Erik A. Imel has received grants from Kyowa Kirin and Ultragenyx (paid to his institution) and personal fees for participating in advisory boards and steering committees from Ultragenyx. Aliya A. Khan has received grants and honoraria from Alexion, Amgen, Ascendis, Chugai, Radius, Takeda, and Ultragenyx. M. Carola Zillikens has received grants from Kyowa Kirin and Health Holland (paid to institution), is a member of the steering committee of the European XLH Registry, the steering committee of ERN BOND, the Dutch Guideline for Osteoporosis and Fractures, and is a past board member of the European Calcified Tissue Society. Seiji Fukumoto has received personal fees from Kyowa Kirin and Chugai Pharmaceutical for lectures given and is the President of the Japanese Society for Bone and Mineral Research. 3. J Appl Genet. 2022 Sep;63(3):475-495. doi: 10.1007/s13353-022-00703-1. Epub 2022 May 13. Misdiagnosis in mucopolysaccharidoses. Wiśniewska K(1), Wolski J(2), Gaffke L(1), Cyske Z(1), Pierzynowska K(1), Węgrzyn G(3). Author information: (1)Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland. (2)Psychiatry Ward, 7th Navy Hospital in Gdańsk, Polanki 117, 80-305, Gdańsk, Poland. (3)Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland. grzegorz.wegrzyn@biol.ug.edu.pl. Mucopolysaccharidosis (MPS) is a group of 13 hereditary metabolic diseases identified in humans (or 14 diseases if considering one MPS type described to date only in mice) in which an enzymatic defect results in the accumulation of glycosaminoglycans (GAG) in the lysosomes of cells. First of all, as a result of GAG storage, the proper functioning of the lysosome is disturbed; then, the cells, and finally, tissue, organs, and the whole organism malfunctions are observed. Due to the rarity, heterogeneity, and multi-systemic and progressive nature of MPS, they present a major diagnostic challenge. Due to the wide variation in symptoms and their similarity to other diseases, MPS is often misdiagnosed, usually as neurological diseases (like autism spectrum disorders, psychomotor hyperactivity, and intellectual disability) or rheumatology and orthopedic disorders (like juvenile idiopathic arthritis, Perthes disease, rickets, and muscular dystrophy). In this review article, we present the problems associated with the possibility of misdiagnosing MPS, discuss what diseases they can be confused with, and suggest ways to reduce these problems in the future. © 2022. The Author(s), under exclusive licence to Institute of Plant Genetics Polish Academy of Sciences. DOI: 10.1007/s13353-022-00703-1