Literature DB >> 26197863

Pathogenesis and diagnostic criteria for rickets and osteomalacia--proposal by an expert panel supported by the Ministry of Health, Labour and Welfare, Japan, the Japanese Society for Bone and Mineral Research, and the Japan Endocrine Society.

Seiji Fukumoto1, Keiichi Ozono, Toshimi Michigami, Masanori Minagawa, Ryo Okazaki, Toshitsugu Sugimoto, Yasuhiro Takeuchi, Toshio Matsumoto.   

Abstract

Rickets and osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations have revealed that the causes of rickets and osteomalacia are quite variable. Although these diseases can severely impair the quality of life of affected patients, rickets and osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose rickets or osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of rickets and osteomalacia, and propose diagnostic criteria and a flowchart for the differential diagnosis of various causes of these diseases. We hope that these criteria and the flowchart are clinically useful for the proper diagnosis and management of these diseases.

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Year:  2015        PMID: 26197863     DOI: 10.1007/s00774-015-0698-7

Source DB:  PubMed          Journal:  J Bone Miner Metab        ISSN: 0914-8779            Impact factor:   2.626


  19 in total

1.  Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia.

Authors:  Yuji Yamazaki; Ryo Okazaki; Minako Shibata; Yukihiro Hasegawa; Kohei Satoh; Toshihiro Tajima; Yasuhiro Takeuchi; Toshiro Fujita; Kazuhiko Nakahara; Takeyoshi Yamashita; Seiji Fukumoto
Journal:  J Clin Endocrinol Metab       Date:  2002-11       Impact factor: 5.958

2.  Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.

Authors:  S Kitanaka; K Takeyama; A Murayama; T Sato; K Okumura; M Nogami; Y Hasegawa; H Niimi; J Yanagisawa; T Tanaka; S Kato
Journal:  N Engl J Med       Date:  1998-03-05       Impact factor: 91.245

3.  Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

Authors:  Bettina Lorenz-Depiereux; Anna Benet-Pages; Gertrud Eckstein; Yardena Tenenbaum-Rakover; Janine Wagenstaller; Dov Tiosano; Ruth Gershoni-Baruch; Norbert Albers; Peter Lichtner; Dirk Schnabel; Ze'ev Hochberg; Tim M Strom
Journal:  Am J Hum Genet       Date:  2005-12-09       Impact factor: 11.025

4.  A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

Authors:  M J Weiss; D E Cole; K Ray; M P Whyte; M A Lafferty; R A Mulivor; H Harris
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

Review 5.  Bone disorders in chronic liver disease.

Authors:  Jane Collier
Journal:  Hepatology       Date:  2007-10       Impact factor: 17.425

6.  A common molecular basis for three inherited kidney stone diseases.

Authors:  S E Lloyd; S H Pearce; S E Fisher; K Steinmeyer; B Schwappach; S J Scheinman; B Harding; A Bolino; M Devoto; P Goodyer; S P Rigden; O Wrong; T J Jentsch; I W Craig; R V Thakker
Journal:  Nature       Date:  1996-02-01       Impact factor: 49.962

Review 7.  Musculoskeletal manifestations of osteomalacia and rickets.

Authors:  Antonio J Reginato; Juliet Arambulo Coquia
Journal:  Best Pract Res Clin Rheumatol       Date:  2003-12       Impact factor: 4.098

8.  Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement.

Authors:  Itsuro Endo; Seiji Fukumoto; Keiichi Ozono; Noriyuki Namba; Hiroyuki Tanaka; Daisuke Inoue; Masanori Minagawa; Toshitsugu Sugimoto; Mika Yamauchi; Toshimi Michigami; Toshio Matsumoto
Journal:  Bone       Date:  2008-03-05       Impact factor: 4.398

Review 9.  Bone as an endocrine organ.

Authors:  Seiji Fukumoto; T John Martin
Journal:  Trends Endocrinol Metab       Date:  2009-06-21       Impact factor: 12.015

Review 10.  Vitamin D: a critical and essential micronutrient for human health.

Authors:  Igor Bendik; Angelika Friedel; Franz F Roos; Peter Weber; Manfred Eggersdorfer
Journal:  Front Physiol       Date:  2014-07-11       Impact factor: 4.566

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  16 in total

Review 1.  Vitamin D in pediatric age: consensus of the Italian Pediatric Society and the Italian Society of Preventive and Social Pediatrics, jointly with the Italian Federation of Pediatricians.

Authors:  Giuseppe Saggese; Francesco Vierucci; Flavia Prodam; Fabio Cardinale; Irene Cetin; Elena Chiappini; Gian Luigi De' Angelis; Maddalena Massari; Emanuele Miraglia Del Giudice; Michele Miraglia Del Giudice; Diego Peroni; Luigi Terracciano; Rino Agostiniani; Domenico Careddu; Daniele Giovanni Ghiglioni; Gianni Bona; Giuseppe Di Mauro; Giovanni Corsello
Journal:  Ital J Pediatr       Date:  2018-05-08       Impact factor: 2.638

2.  Assessment criteria for vitamin D deficiency/insufficiency in Japan: proposal by an expert panel supported by the Research Program of Intractable Diseases, Ministry of Health, Labour and Welfare, Japan, the Japanese Society for Bone and Mineral Research and the Japan Endocrine Society [Opinion].

Authors:  Ryo Okazaki; Keiichi Ozono; Seiji Fukumoto; Daisuke Inoue; Mika Yamauchi; Masanori Minagawa; Toshimi Michigami; Yasuhiro Takeuchi; Toshio Matsumoto; Toshitsugu Sugimoto
Journal:  J Bone Miner Metab       Date:  2016-11-23       Impact factor: 2.626

Review 3.  The Measurement and Interpretation of Fibroblast Growth Factor 23 (FGF23) Concentrations.

Authors:  Annemieke C Heijboer; Etienne Cavalier
Journal:  Calcif Tissue Int       Date:  2022-06-04       Impact factor: 4.333

4.  Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23.

Authors:  Nobuaki Ito; Takuo Kubota; Sachiko Kitanaka; Ikuma Fujiwara; Masanori Adachi; Yasuhiro Takeuchi; Hitomi Yamagami; Takehide Kimura; Tatsuya Shinoda; Masanori Minagawa; Ryo Okazaki; Keiichi Ozono; Yoshiki Seino; Seiji Fukumoto
Journal:  J Bone Miner Metab       Date:  2021-07-13       Impact factor: 2.626

5.  Low bone mineral density due to secondary hyperparathyroidism in the GlatmTg(CAG-A4GALT) mouse model of Fabry disease.

Authors:  Hiroki Maruyama; Atsumi Taguchi; Mariko Mikame; Hongmei Lu; Norihiro Tada; Muneaki Ishijima; Haruka Kaneko; Mariko Kawai; Sawako Goto; Akihiko Saito; Riuko Ohashi; Yuji Nishikawa; Satoshi Ishii
Journal:  FASEB Bioadv       Date:  2020-06-10

6.  Long-term outcomes for Asian patients with X-linked hypophosphataemia: rationale and design of the SUNFLOWER longitudinal, observational cohort study.

Authors:  Takuo Kubota; Seiji Fukumoto; Hae Il Cheong; Toshimi Michigami; Noriyuki Namba; Nobuaki Ito; Shin Tokunaga; Yoshimi Gibbs; Keiichi Ozono
Journal:  BMJ Open       Date:  2020-06-29       Impact factor: 2.692

7.  Osteomalacia and Vitamin D Status: A Clinical Update 2020.

Authors:  Salvatore Minisola; Luciano Colangelo; Jessica Pepe; Daniele Diacinti; Cristiana Cipriani; Sudhaker D Rao
Journal:  JBMR Plus       Date:  2020-12-21

Review 8.  Crucial Role of Vitamin D in the Musculoskeletal System.

Authors:  Elke Wintermeyer; Christoph Ihle; Sabrina Ehnert; Ulrich Stöckle; Gunnar Ochs; Peter de Zwart; Ingo Flesch; Christian Bahrs; Andreas K Nussler
Journal:  Nutrients       Date:  2016-06-01       Impact factor: 5.717

9.  Skeletal mineralization: mechanisms and diseases.

Authors:  Toshimi Michigami
Journal:  Ann Pediatr Endocrinol Metab       Date:  2019-12-31

Review 10.  X-Linked Hypophosphatemia: A New Era in Management.

Authors:  Kathryn Dahir; Mary Scott Roberts; Stan Krolczyk; Jill H Simmons
Journal:  J Endocr Soc       Date:  2020-10-14
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