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Are we forgetting to carry out serum protein electrophoresis as part of diagnosis workup?

BACKGROUND: Common variable immunodeficiency (CVID) is a rare disease that affects children and adults and is often difficult to diagnose. Despite being one of the most frequent causes of immunodeficiency, involving gastrointestinal (GI), respiratory, and hematological systems, the disease onset can...

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Autores principales: Marcondes, Mariana Barros, Susuki, Cíntia Mitsue Pereira, Hokama, Newton Key, Hokama, Paula de Oliveira Montandon, Oliver, Felipe Aguera, Chaib, Paulo Sergio, Qi, Xingshun, Romeiro, Fernando Gomes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441081/
https://www.ncbi.nlm.nih.gov/pubmed/36058908
http://dx.doi.org/10.1186/s12876-022-02477-6
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author Marcondes, Mariana Barros
Susuki, Cíntia Mitsue Pereira
Hokama, Newton Key
Hokama, Paula de Oliveira Montandon
Oliver, Felipe Aguera
Chaib, Paulo Sergio
Qi, Xingshun
Romeiro, Fernando Gomes
author_facet Marcondes, Mariana Barros
Susuki, Cíntia Mitsue Pereira
Hokama, Newton Key
Hokama, Paula de Oliveira Montandon
Oliver, Felipe Aguera
Chaib, Paulo Sergio
Qi, Xingshun
Romeiro, Fernando Gomes
author_sort Marcondes, Mariana Barros
collection PubMed
description BACKGROUND: Common variable immunodeficiency (CVID) is a rare disease that affects children and adults and is often difficult to diagnose. Despite being one of the most frequent causes of immunodeficiency, involving gastrointestinal (GI), respiratory, and hematological systems, the disease onset can have heterogeneous and intermittent symptoms, frequently leading to diagnostic delay. GI symptoms are common and can include diarrhea, but the asymptomatic periods lead to overlooking the recurrent pattern. The same can occur with respiratory infections, thus delaying CVID suspicion. The starting point for CVID diagnosis is the decreased gamma globulin levels in serum protein electrophoresis (SPE), also observed through direct immunoglobulin’s dosage. CASE PRESENTATION: The patient is a 38 years-old man who had intermittent diarrhea and recurrent airway infections for 19 years, but the CVID diagnosis was achieved only after SPE was carried out. At that time, he was already malnourished, and developed other complications related to CVID in a short period. CONCLUSIONS: SPE is readily available and inexpensive, but is not part of the laboratory approach in diarrhea. According to the case presented herein, it can be useful for patients with recurrent infections or other clues of the disease.
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spelling pubmed-94410812022-09-05 Are we forgetting to carry out serum protein electrophoresis as part of diagnosis workup? Marcondes, Mariana Barros Susuki, Cíntia Mitsue Pereira Hokama, Newton Key Hokama, Paula de Oliveira Montandon Oliver, Felipe Aguera Chaib, Paulo Sergio Qi, Xingshun Romeiro, Fernando Gomes BMC Gastroenterol Case Report BACKGROUND: Common variable immunodeficiency (CVID) is a rare disease that affects children and adults and is often difficult to diagnose. Despite being one of the most frequent causes of immunodeficiency, involving gastrointestinal (GI), respiratory, and hematological systems, the disease onset can have heterogeneous and intermittent symptoms, frequently leading to diagnostic delay. GI symptoms are common and can include diarrhea, but the asymptomatic periods lead to overlooking the recurrent pattern. The same can occur with respiratory infections, thus delaying CVID suspicion. The starting point for CVID diagnosis is the decreased gamma globulin levels in serum protein electrophoresis (SPE), also observed through direct immunoglobulin’s dosage. CASE PRESENTATION: The patient is a 38 years-old man who had intermittent diarrhea and recurrent airway infections for 19 years, but the CVID diagnosis was achieved only after SPE was carried out. At that time, he was already malnourished, and developed other complications related to CVID in a short period. CONCLUSIONS: SPE is readily available and inexpensive, but is not part of the laboratory approach in diarrhea. According to the case presented herein, it can be useful for patients with recurrent infections or other clues of the disease. BioMed Central 2022-09-04 /pmc/articles/PMC9441081/ /pubmed/36058908 http://dx.doi.org/10.1186/s12876-022-02477-6 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Marcondes, Mariana Barros
Susuki, Cíntia Mitsue Pereira
Hokama, Newton Key
Hokama, Paula de Oliveira Montandon
Oliver, Felipe Aguera
Chaib, Paulo Sergio
Qi, Xingshun
Romeiro, Fernando Gomes
Are we forgetting to carry out serum protein electrophoresis as part of diagnosis workup?
title Are we forgetting to carry out serum protein electrophoresis as part of diagnosis workup?
title_full Are we forgetting to carry out serum protein electrophoresis as part of diagnosis workup?
title_fullStr Are we forgetting to carry out serum protein electrophoresis as part of diagnosis workup?
title_full_unstemmed Are we forgetting to carry out serum protein electrophoresis as part of diagnosis workup?
title_short Are we forgetting to carry out serum protein electrophoresis as part of diagnosis workup?
title_sort are we forgetting to carry out serum protein electrophoresis as part of diagnosis workup?
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441081/
https://www.ncbi.nlm.nih.gov/pubmed/36058908
http://dx.doi.org/10.1186/s12876-022-02477-6
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