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Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P)
Familial dysalbuminemic hyperthyroxinemia (FDH) is a familial autosomal dominant disease caused by mutation in the albumin gene that produces a condition of euthyroid hyperthyroxinemia. In patients with FDH, serum-free thyroxine (FT4) and free triiodothyronine (FT3) concentrations as measured by sev...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Libertas Academica
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821441/ https://www.ncbi.nlm.nih.gov/pubmed/27081329 http://dx.doi.org/10.4137/JCM.S38990 |
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author | Osaki, Yoshinori Hayashi, Yoshitaka Nakagawa, Yoshinori Yoshida, Katsumi Ozaki, Hiroshi Fukazawa, Hiroshi |
author_facet | Osaki, Yoshinori Hayashi, Yoshitaka Nakagawa, Yoshinori Yoshida, Katsumi Ozaki, Hiroshi Fukazawa, Hiroshi |
author_sort | Osaki, Yoshinori |
collection | PubMed |
description | Familial dysalbuminemic hyperthyroxinemia (FDH) is a familial autosomal dominant disease caused by mutation in the albumin gene that produces a condition of euthyroid hyperthyroxinemia. In patients with FDH, serum-free thyroxine (FT4) and free triiodothyronine (FT3) concentrations as measured by several commercial methods are often falsely increased with normal thyrotropin (TSH). Therefore, several diagnostic steps are needed to differentiate TSH-secreting tumor or generalized resistance to thyroid hormone from FDH. We herein report a case of a Japanese man born in Aomori prefecture, with FDH caused by a mutant albumin gene (R218P). We found that a large number of FDH patients reported in Japan to date might have been born in Aomori prefecture and have shown the R218P mutation. In conclusion, FDH needs to be considered among the differential diagnoses in Japanese patients born in Aomori prefecture and showing normal TSH levels and elevated FT4 levels. |
format | Online Article Text |
id | pubmed-4821441 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Libertas Academica |
record_format | MEDLINE/PubMed |
spelling | pubmed-48214412016-04-14 Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P) Osaki, Yoshinori Hayashi, Yoshitaka Nakagawa, Yoshinori Yoshida, Katsumi Ozaki, Hiroshi Fukazawa, Hiroshi Jpn Clin Med Case Report Familial dysalbuminemic hyperthyroxinemia (FDH) is a familial autosomal dominant disease caused by mutation in the albumin gene that produces a condition of euthyroid hyperthyroxinemia. In patients with FDH, serum-free thyroxine (FT4) and free triiodothyronine (FT3) concentrations as measured by several commercial methods are often falsely increased with normal thyrotropin (TSH). Therefore, several diagnostic steps are needed to differentiate TSH-secreting tumor or generalized resistance to thyroid hormone from FDH. We herein report a case of a Japanese man born in Aomori prefecture, with FDH caused by a mutant albumin gene (R218P). We found that a large number of FDH patients reported in Japan to date might have been born in Aomori prefecture and have shown the R218P mutation. In conclusion, FDH needs to be considered among the differential diagnoses in Japanese patients born in Aomori prefecture and showing normal TSH levels and elevated FT4 levels. Libertas Academica 2016-04-04 /pmc/articles/PMC4821441/ /pubmed/27081329 http://dx.doi.org/10.4137/JCM.S38990 Text en © 2016 the author(s), publisher and licensee Libertas Academica Ltd. This is an open-access article distributed under the terms of the Creative Commons CC-BY-NC 3.0 License. |
spellingShingle | Case Report Osaki, Yoshinori Hayashi, Yoshitaka Nakagawa, Yoshinori Yoshida, Katsumi Ozaki, Hiroshi Fukazawa, Hiroshi Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P) |
title | Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P) |
title_full | Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P) |
title_fullStr | Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P) |
title_full_unstemmed | Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P) |
title_short | Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P) |
title_sort | familial dysalbuminemic hyperthyroxinemia in a japanese man caused by a point albumin gene mutation (r218p) |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821441/ https://www.ncbi.nlm.nih.gov/pubmed/27081329 http://dx.doi.org/10.4137/JCM.S38990 |
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