المؤلفون: Iio K; Department of Nephrology, National Hospital Organization Osaka Minami Medical Center, 2-1 Kidohigashimachi, Kawachinagano, Osaka, 586-8521, Japan. iioken16@outlook.com., Mori T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan., Bessho S; Department of Nephrology, National Hospital Organization Osaka Minami Medical Center, 2-1 Kidohigashimachi, Kawachinagano, Osaka, 586-8521, Japan., Imai Y; Department of Nephrology, National Hospital Organization Osaka Minami Medical Center, 2-1 Kidohigashimachi, Kawachinagano, Osaka, 586-8521, Japan., Hatanaka M; Department of Nephrology, National Hospital Organization Osaka Minami Medical Center, 2-1 Kidohigashimachi, Kawachinagano, Osaka, 586-8521, Japan., Omori H; Department of Nephrology, National Hospital Organization Osaka Minami Medical Center, 2-1 Kidohigashimachi, Kawachinagano, Osaka, 586-8521, Japan., Kouhara H; Department of Endocrinology and Metabolism, Osaka Minami Medical Center, 2-1 Kidohigashimachi, Kawachinagano, Osaka, 586-8521, Japan., Chiga M; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan., Sohara E; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan., Uchida S; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan., Kaimori JY; Department of Inter-Organ Communication Research in Kidney Disease, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, 565-0871, Japan.

المصدر: CEN case reports [CEN Case Rep] 2022 May; Vol. 11 (2), pp. 191-195. Date of Electronic Publication: 2021 Oct 06.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer Japan Country of Publication: Japan NLM ID: 101636244 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2192-4449 (Electronic) Linking ISSN: 21924449 NLM ISO Abbreviation: CEN Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 2*/complications , Diabetes Mellitus, Type 2*/genetics , Gitelman Syndrome*/complications , Gitelman Syndrome*/diagnosis , Gitelman Syndrome*/genetics , Hypokalemia*/complications , Renal Insufficiency, Chronic*/complications, Female ; Humans ; Male ; Middle Aged ; Solute Carrier Family 12, Member 3/genetics ; Solute Carrier Family 12, Member 3/metabolism

المؤلفون: Mori T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan., Chiga M; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan., Fujimaru T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan., Kawamoto R; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan., Mandai S; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan., Nanamatsu A; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan., Nomura N; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan., Ando F; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan., Susa K; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan., Sohara E; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan., Rai T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan., Uchida S; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.

المصدر: Human mutation [Hum Mutat] 2021 Mar; Vol. 42 (3), pp. 300-309. Date of Electronic Publication: 2020 Dec 31.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Bartter Syndrome*/genetics , Gitelman Syndrome*/complications , Gitelman Syndrome*/diagnosis , Gitelman Syndrome*/genetics , Hypokalemia*/complications , Hypokalemia*/diagnosis , Hypokalemia*/genetics, Adult ; Female ; Humans ; Male ; Mutation ; Phenotype

المؤلفون: Umene R; Department of Nephrology, JCHO Isahaya General Hospital, Nagasaki, Japan.; Department of Nephrology, Nagasaki University School of Medicine Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki, 852-8102, Japan., Kitamura M; Department of Nephrology, Nagasaki University School of Medicine Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki, 852-8102, Japan. mkitamura-ngs@umin.ac.jp., Arai H; Department of Nephrology, JCHO Isahaya General Hospital, Nagasaki, Japan., Matsumura K; Department of Nephrology, JCHO Isahaya General Hospital, Nagasaki, Japan., Ishimaru Y; Department of Nephrology, JCHO Isahaya General Hospital, Nagasaki, Japan., Maeda K; Ken-ai-kai Maeda Clinic, Nagasaki, Japan., Uramatsu T; Department of Nephrology, Nagasaki University School of Medicine Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki, 852-8102, Japan., Obata Y; Department of Nephrology, Nagasaki University School of Medicine Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki, 852-8102, Japan., Mori T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Sohara E; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Uchida S; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Nishino T; Department of Nephrology, Nagasaki University School of Medicine Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki, 852-8102, Japan.

المصدر: CEN case reports [CEN Case Rep] 2020 Nov; Vol. 9 (4), pp. 375-379. Date of Electronic Publication: 2020 Jun 06.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer Japan Country of Publication: Japan NLM ID: 101636244 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2192-4449 (Electronic) Linking ISSN: 21924449 NLM ISO Abbreviation: CEN Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Bartter Syndrome/*diagnosis , Bartter Syndrome/*genetics , Gitelman Syndrome/*diagnosis , Renal Insufficiency/*complications, Adult ; Bartter Syndrome/drug therapy ; Chloride Channels/genetics ; Diagnosis, Differential ; Drug Therapy, Combination ; Febuxostat/administration & dosage ; Febuxostat/therapeutic use ; Female ; Gitelman Syndrome/genetics ; Gout Suppressants/administration & dosage ; Gout Suppressants/therapeutic use ; Heterozygote ; Humans ; Hyperuricemia/etiology ; Hypokalemia/etiology ; Mutation ; Phenotype ; Potassium Chloride/administration & dosage ; Potassium Chloride/therapeutic use ; Solute Carrier Family 12, Member 1/genetics ; Treatment Outcome

المؤلفون: Kusuda T; Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Japan., Hosoya T, Mori T, Ihara K, Nishida H, Chiga M, Sohara E, Rai T, Koike R, Uchida S, Kohsaka H

المصدر: Internal medicine (Tokyo, Japan) [Intern Med] 2016; Vol. 55 (21), pp. 3201-3204. Date of Electronic Publication: 2016 Nov 01.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Japanese Society of Internal Medicine Country of Publication: Japan NLM ID: 9204241 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1349-7235 (Electronic) Linking ISSN: 09182918 NLM ISO Abbreviation: Intern Med Subsets: MEDLINE

مواضيع طبية MeSH: Gitelman Syndrome/*diagnosis , Solute Carrier Family 12, Member 3/*genetics, Adult ; Antibodies, Antinuclear/blood ; Diagnosis, Differential ; Female ; Genetic Predisposition to Disease ; Gitelman Syndrome/blood ; Gitelman Syndrome/genetics ; Humans

المؤلفون: Yang SS; Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan., Lo YF, Yu IS, Lin SW, Chang TH, Hsu YJ, Chao TK, Sytwu HK, Uchida S, Sasaki S, Lin SH

المصدر: Human mutation [Hum Mutat] 2010 Dec; Vol. 31 (12), pp. 1304-15. Date of Electronic Publication: 2010 Oct 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Disease Models, Animal*, Gene Knock-In Techniques/*methods , Gitelman Syndrome/*genetics , Receptors, Drug/*genetics , Serine/*genetics , Symporters/*genetics , Thiazides/*pharmacology, Animals ; Base Sequence ; Calcium Channels/metabolism ; Cell Size/drug effects ; Codon, Nonsense/genetics ; Diet ; Female ; Fluorescent Antibody Technique ; Gitelman Syndrome/pathology ; Humans ; Kidney/drug effects ; Kidney/metabolism ; Kidney/pathology ; Kidney/ultrastructure ; Male ; Mice ; Middle Aged ; Molecular Sequence Data ; Phenotype ; Potassium Chloride/administration & dosage ; Potassium Chloride/pharmacology ; RNA Stability/drug effects ; RNA Stability/genetics ; Receptors, Drug/metabolism ; Sodium/metabolism ; Solute Carrier Family 12, Member 3 ; Symporters/metabolism ; Young Adult

المؤلفون: Yang SS; Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan., Lo YF, Wu CC, Lin SW, Yeh CJ, Chu P, Sytwu HK, Uchida S, Sasaki S, Lin SH

المصدر: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2010 Nov; Vol. 21 (11), pp. 1868-77. Date of Electronic Publication: 2010 Sep 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wolters Kluwer Health, on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J Am Soc Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Aorta/*physiopathology , Gitelman Syndrome/*metabolism , Gitelman Syndrome/*physiopathology , Protein Serine-Threonine Kinases/*deficiency , Vasoconstriction/*physiology, Animals ; Aorta/drug effects ; Blood Pressure/physiology ; Disease Models, Animal ; Diuretics/pharmacology ; Female ; Furosemide/pharmacology ; Hydrochlorothiazide/pharmacology ; Hypotension/metabolism ; Hypotension/physiopathology ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mice, Transgenic ; Protein Serine-Threonine Kinases/genetics ; Sodium Chloride Symporters/metabolism ; Sodium-Potassium-Chloride Symporters/metabolism ; Vasoconstriction/drug effects

المؤلفون: Uchida S

المصدر: Nihon Jinzo Gakkai shi [Nihon Jinzo Gakkai Shi] 2010; Vol. 52 (1), pp. 10-2.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Japanese Society Of Nephrology Country of Publication: Japan NLM ID: 7505731 Publication Model: Print Cited Medium: Print ISSN: 0385-2385 (Print) Linking ISSN: 03852385 NLM ISO Abbreviation: Nihon Jinzo Gakkai Shi Subsets: MEDLINE

مواضيع طبية MeSH: Ataxia/*etiology , Epilepsy/*etiology , Gitelman Syndrome/*etiology , Hearing Loss, Sensorineural/*etiology , Hyperaldosteronism/*etiology , Hypertension/*etiology , Kidney/*physiology , Potassium Channels/*physiology, Animals ; Chloride Channels/physiology ; Humans ; Large-Conductance Calcium-Activated Potassium Channels/physiology ; Mice ; Nerve Tissue Proteins/physiology ; Potassium Channels, Tandem Pore Domain/physiology ; Protein Serine-Threonine Kinases/physiology ; Syndrome