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Your search keyword '"Takahashi, Michiko"' showing total 9 results
Start Over Author "Takahashi, Michiko" Journal endocrine journal
9 results on '"Takahashi, Michiko"'

1. Survey of glucocorticoid dose escalation in patients with adrenal insufficiency during the peri-COVID-19 vaccination period

Author

Bando, Hironori, primary, Yamamoto, Masaaki, additional, Takahashi, Michiko, additional, Kanie, Keitaro, additional, Sasaki, Yuriko, additional, Oi, Yuka, additional, Tomofuji, Seiji, additional, Hozumi, Kaori, additional, Nishikage, Seiji, additional, Urai, Shin, additional, Yamamoto, Naoki, additional, Suzuki, Masaki, additional, Shichi, Hiroki, additional, Iguchi, Genzo, additional, Fukuoka, Hidenori, additional, and Ogawa, Wataru, additional

Published
2023
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2. Genetic and clinical characteristics of Japanese patients with sporadic somatotropinoma

Author

Matsumoto, Ryusaku, primary, Izawa, Masako, additional, Fukuoka, Hidenori, additional, Iguchi, Genzo, additional, Odake, Yukiko, additional, Yoshida, Kenichi, additional, Bando, Hironori, additional, Suda, Kentaro, additional, Nishizawa, Hitoshi, additional, Takahashi, Michiko, additional, Inoshita, Naoko, additional, Yamada, Shozo, additional, Ogawa, Wataru, additional, and Takahashi, Yutaka, additional

Published
2016
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5. A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti–PIT-1 antibody syndrome

Author

Yamamoto, Masaaki, primary, Iguchi, Genzo, additional, Bando, Hironori, additional, Fukuoka, Hidenori, additional, Suda, Kentaro, additional, Takahashi, Michiko, additional, Nishizawa, Hitoshi, additional, Matsumoto, Ryusaku, additional, Tojo, Katsuyoshi, additional, Mokubo, Atsuko, additional, Ogata, Tsutomu, additional, and Takahashi, Yutaka, additional

Published
2014
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9. Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.

Author

Tajima T, Kobayashi Y, Abe S, Takahashi M, Konno M, Nakae J, Okuhara K, Satoh K, Ishikawa T, Imai T, and Fujieda K

Subjects
Adolescent, Carrier Proteins metabolism, Child, Female, Humans, Molecular Sequence Data, Mutation, Polymerase Chain Reaction, Receptors, Drug metabolism, Sequence Analysis, DNA, Sodium Chloride Symporters, Solute Carrier Family 12, Member 3, Carrier Proteins genetics, Hypokalemic Periodic Paralysis genetics, Receptors, Drug genetics, Symporters
Abstract

Gitelman syndrome is a renal disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria due to the defective tubular reabsorption of magnesium and potassium. This disease is caused by mutations of thiazide-sensitive Na-Cl cotransporter (TSC) gene. Gitelman syndrome is usually distinguished from Bartter syndrome by the presence of both hypomagnesemia and hypocalciuria. However, a phenotypic overlap is sometimes observed. We encountered two sporadic Japanese patients with Gitelman syndrome and analyzed their TSC gene. These patients were diagnosed as Gitelman syndrome by the typical clinical findings and biochemical abnormalities, such as mild muscular weakness, periodic paralysis, tetany, metabolic alkalosis, hypomagnesemia and hypocalciuria. In patient 1, a novel two base deletion (del TG at nucleotide 731 and 732) in exon 5 and a two base deletion (del TT at nucleotide 2543 and 2544) in exon 21 previously reported in a Japanese patient were identified. The patient 2 had a missense mutation (L623P), that was also identified in Japanese patients, and a novel in-frame 18 base insertion in exon 6 as a heterozygous state. Family analysis of two patients confirmed an autosomal recessive inheritance. In conclusion, we add two new mutations of the TSC gene in Japanese patients with Gitelman syndrome. Because the differential diagnosis between Bartter syndrome and Gitelman syndrome is sometimes difficult, molecular analysis would be a useful diagnostic tool, particularly in unusual cases with phenotypic overlapping.

Published
2002
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