| Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. | |
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MedLine Citation:
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PMID: 12008755 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Toshihiro Tajima; Yuichi Kobayashi; Shuji Abe; Michiko Takahashi; Mutsuko Konno; Jun Nakae; Kouji Okuhara; Kouhei Satoh; Takeshi Ishikawa; Toshio Imai; Kenji Fujieda |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Endocrine journal Volume: 49 ISSN: 0918-8959 ISO Abbreviation: Endocr. J. Publication Date: 2002 Feb |
Date Detail:
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Created Date: 2002-05-14 Completed Date: 2002-11-15 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9313485 Medline TA: Endocr J Country: Japan |
Other Details:
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Languages: eng Pagination: 91-6 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Carrier Proteins / genetics*, metabolism Child Female Humans Hypokalemic Periodic Paralysis / genetics* Molecular Sequence Data Mutation Polymerase Chain Reaction Receptors, Drug / genetics*, metabolism Sequence Analysis, DNA Sodium Chloride Symporters Symporters* |
| Chemical | |
Reg. No./Substance:
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0/Carrier Proteins; 0/Receptors, Drug; 0/SLC12A3 protein, human; 0/Sodium Chloride Symporters; 0/Symporters; 0/thiazide receptor |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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