著者
Rieko Takatani Takuo Kubota Masanori Minagawa Daisuke Inoue Seiji Fukumoto Keiichi Ozono Yosikazu Nakamura
出版者
Japan Epidemiological Association
雑誌
Journal of Epidemiology (ISSN:09175040)
巻号頁・発行日
vol.33, no.11, pp.569-573, 2023-11-05 (Released:2023-11-05)
参考文献数
18
被引用文献数
2

Background: Pseudohypoparathyroidism (PHP) and nonsurgical hypoparathyroidism (NS-HypoPT) are rare diseases with hypocalcemia, hyperphosphatemia, and high and low parathyroid hormone levels, respectively. In Japan, over 20 years have passed since the last survey on these diseases. We carried out a nationwide cross-sectional survey to estimate the prevalence of these diseases in 2018.Methods: We conducted a nationwide mail-based survey targeting hospitals in 2018. From a total of 13,156 departments throughout Japan, including internal medicine, pediatrics, neurology, and psychiatry, 3,501 (27%) departments were selected using a stratified random sampling method. We asked each included department to report the number of patients with PHP and NS-HypoPT in 2017.Results: The overall survey response rate was 52.0% (1,807 departments). The estimated number of patients with PHP and NS-HypoPT was 1,484 (95% confidence interval [CI], 1,143–1,825) and 2,304 (95% CI, 1,189–3,419), respectively; the prevalence per 100,000 population was 1.2 and 1.8, respectively.Conclusion: In this study, we generated estimates of the national prevalence of PHP and NS-HypoPT in Japan during 2017, which were found to be higher than those previously reported.
著者
Ryo Okazaki Keiichi Ozono Seiji Fukumoto Daisuke Inoue Mika Yamauchi Masanori Minagawa Toshimi Michigami Yasuhiro Takeuchi Toshio Matsumoto Toshitsugu Sugimoto
出版者
(社)日本内分泌学会
雑誌
Endocrine Journal (ISSN:09188959)
巻号頁・発行日
pp.EJ16-0548, (Released:2016-12-20)
被引用文献数
36

Vitamin D is indispensable for the maintenance of bone and mineral health. Inadequate vitamin D action increases the risk for various musculoskeletal/mineral events including fracture, fall, secondary hyperparathyroidism, diminished response to antiresorptives, rickets/osteomalacia, and hypocalcemia. Its most common cause in recent years is vitamin D deficiency/insufficiency, clinically defined by low serum 25-hydroxyvitamin D [25(OH)D] level. Guidelines for vitamin D insufficiency/deficiency defined by serum 25(OH)D concentrations have been published all over the world. In Japan, however, the information on the associations between serum 25(OH)D and bone and mineral disorders has not been widely shared among healthcare providers, partly because its measurement had not been reimbursed with national medical insurance policy until August 2016. We have set out to collect and analyze Japanese data on the relationship between serum 25(OH)D concentration and bone and mineral events. Integrating these domestic data and published guidelines worldwide, here we present the following assessment criteria for vitamin D sufficiency/insufficiency/deficiency using serum 25(OH)D level in Japan. 1) Serum 25(OH)D level equal to or above 30 ng/ml is considered to be vitamin D sufficient. 2) Serum 25(OH)D level less than 30 ng/ml but not less than 20 ng/ml is considered to be vitamin D insufficient. 3) Serum 25(OH)D level less than 20 ng/ml is considered to be vitamin D deficient. We believe that these criteria will be clinically helpful in the assessment of serum 25(OH)D concentrations and further expect that they will form a basis for the future development of guidelines for the management of vitamin D deficiency/insufficiency.
著者
Masanori Minagawa
出版者
日本小児内分泌学会
雑誌
Clinical Pediatric Endocrinology (ISSN:09185739)
巻号頁・発行日
vol.14, no.Supplement23, pp.S23_9-S23_16, 2005 (Released:2005-08-27)
参考文献数
5

Pseudohypoparathyroidism (PHP) is composed of PHP-Ia and PHP-Ib. The former is characterized by multiple hormone resistance including parathyroid hormone associated with Albright hereditary osteodystrophy (AHO); but in the latter, AHO is not complicated. In the natural course of PHP-Ia, the time of onset, the degree of hypocalcemia and associated symptoms vary among patients. Since the symptoms of AHO, including brachydactyly, are often ambiguous, the criteria for clinical differential diagnosis between these two types are required. In our 10 cases of sporadic PHP-Ib, no patient had subcutaneous calcification. Currently, however, genetic analysis on the DNA methylation is necessary for the definite diagnosis. All of the 10 cases of sporadic PHP-Ib had complete methylation in NESP55 as well as complete demethylation in the AS and 1A regions of the GNAS gene, while the region of the abnormal methylation in XL were varied among the patients. There was no clear correlation among skewed X-inactivation, abnormal DNA methylation pattern, clinical phenotypes and other complications.
著者
Ryo Okazaki Keiichi Ozono Seiji Fukumoto Daisuke Inoue Mika Yamauchi Masanori Minagawa Toshimi Michigami Yasuhiro Takeuchi Toshio Matsumoto Toshitsugu Sugimoto
出版者
The Japan Endocrine Society
雑誌
Endocrine Journal (ISSN:09188959)
巻号頁・発行日
vol.64, no.1, pp.1-6, 2017 (Released:2017-01-30)
参考文献数
31
被引用文献数
12 36

Vitamin D is indispensable for the maintenance of bone and mineral health. Inadequate vitamin D action increases the risk for various musculoskeletal/mineral events including fracture, fall, secondary hyperparathyroidism, diminished response to antiresorptives, rickets/osteomalacia, and hypocalcemia. Its most common cause in recent years is vitamin D deficiency/insufficiency, clinically defined by low serum 25-hydroxyvitamin D [25(OH)D] level. Guidelines for vitamin D insufficiency/deficiency defined by serum 25(OH)D concentrations have been published all over the world. In Japan, however, the information on the associations between serum 25(OH)D and bone and mineral disorders has not been widely shared among healthcare providers, partly because its measurement had not been reimbursed with national medical insurance policy until August 2016. We have set out to collect and analyze Japanese data on the relationship between serum 25(OH)D concentration and bone and mineral events. Integrating these domestic data and published guidelines worldwide, here we present the following assessment criteria for vitamin D sufficiency/insufficiency/deficiency using serum 25(OH)D level in Japan. 1) Serum 25(OH)D level equal to or above 30 ng/mL is considered to be vitamin D sufficient. 2) Serum 25(OH)D level less than 30 ng/mL but not less than 20 ng/mL is considered to be vitamin D insufficient. 3) Serum 25(OH)D level less than 20 ng/mL is considered to be vitamin D deficient. We believe that these criteria will be clinically helpful in the assessment of serum 25(OH)D concentrations and further expect that they will form a basis for the future development of guidelines for the management of vitamin D deficiency/insufficiency.