A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder

A 65‐year‐old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal computed tomography showed dilation of the urinary tract. Although she had noticed pollakisuria since her forties, she had not been followed up by...

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Detalles Bibliográficos
Autores principales: Obara, Koji, Abe, Erika, Shimozawa, Nobuyuki, Toyoshima, Itaru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7388670/
https://www.ncbi.nlm.nih.gov/pubmed/32742905
http://dx.doi.org/10.1002/jgf2.314
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author Obara, Koji
Abe, Erika
Shimozawa, Nobuyuki
Toyoshima, Itaru
author_facet Obara, Koji
Abe, Erika
Shimozawa, Nobuyuki
Toyoshima, Itaru
author_sort Obara, Koji
collection PubMed
description A 65‐year‐old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal computed tomography showed dilation of the urinary tract. Although she had noticed pollakisuria since her forties, she had not been followed up by any medical institutions until we diagnosed her as a female carrier with ALD. ALD is an X‐linked pattern of inheritance that typically affects males, but many female carriers actually present slowly progressive myelopathy and neuropathy. Therefore, it is important to identify female carriers with ALD and treat them at the earliest stage possible.
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spelling pubmed-73886702020-07-31 A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder Obara, Koji Abe, Erika Shimozawa, Nobuyuki Toyoshima, Itaru J Gen Fam Med Case Reports A 65‐year‐old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal computed tomography showed dilation of the urinary tract. Although she had noticed pollakisuria since her forties, she had not been followed up by any medical institutions until we diagnosed her as a female carrier with ALD. ALD is an X‐linked pattern of inheritance that typically affects males, but many female carriers actually present slowly progressive myelopathy and neuropathy. Therefore, it is important to identify female carriers with ALD and treat them at the earliest stage possible. John Wiley and Sons Inc. 2020-03-18 /pmc/articles/PMC7388670/ /pubmed/32742905 http://dx.doi.org/10.1002/jgf2.314 Text en © 2020 The Authors. Journal of General and Family Medicine published by John Wiley & Sons Australia, Ltd on behalf of Japan Primary Care Association This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Obara, Koji
Abe, Erika
Shimozawa, Nobuyuki
Toyoshima, Itaru
A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder
title A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder
title_full A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder
title_fullStr A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder
title_full_unstemmed A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder
title_short A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder
title_sort case of female adrenoleukodystrophy carrier with insidious neurogenic bladder
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7388670/
https://www.ncbi.nlm.nih.gov/pubmed/32742905
http://dx.doi.org/10.1002/jgf2.314
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