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Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-epithelial cells including macrophages. LPI is caused by biallelic, pathogenic variants in SLC7A7. Th...

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Autores principales: Contreras, Josefina Longeri, Ladino, Mabel A., Aránguiz, Katherine, Mendez, Gonzalo P., Coban-Akdemir, Zeynep, Yuan, Bo, Gibbs, Richard A., Burrage, Lindsay C., Lupski, James R., Chinn, Ivan K., Vogel, Tiphanie P., Orange, Jordan S., Poli, M. Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172984/
https://www.ncbi.nlm.nih.gov/pubmed/34095032
http://dx.doi.org/10.3389/fped.2021.673957
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author Contreras, Josefina Longeri
Ladino, Mabel A.
Aránguiz, Katherine
Mendez, Gonzalo P.
Coban-Akdemir, Zeynep
Yuan, Bo
Gibbs, Richard A.
Burrage, Lindsay C.
Lupski, James R.
Chinn, Ivan K.
Vogel, Tiphanie P.
Orange, Jordan S.
Poli, M. Cecilia
author_facet Contreras, Josefina Longeri
Ladino, Mabel A.
Aránguiz, Katherine
Mendez, Gonzalo P.
Coban-Akdemir, Zeynep
Yuan, Bo
Gibbs, Richard A.
Burrage, Lindsay C.
Lupski, James R.
Chinn, Ivan K.
Vogel, Tiphanie P.
Orange, Jordan S.
Poli, M. Cecilia
author_sort Contreras, Josefina Longeri
collection PubMed
description Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-epithelial cells including macrophages. LPI is caused by biallelic, pathogenic variants in SLC7A7. The clinical phenotype of LPI includes failure to thrive and multi-system disease including hematologic, neurologic, pulmonary and renal manifestations. Individual presentations are extremely variable, often leading to misdiagnosis or delayed diagnosis. Here we describe a patient that clinically presented with immune dysregulation in the setting of early-onset systemic lupus erythematosus (SLE), including renal involvement, in whom an LPI diagnosis was suspected post-mortem based on exome sequencing analysis. A review of the literature was performed to provide an overview of the clinical spectrum and immune mechanisms involved in this disease. The precise mechanism by which ineffective amino acid transport triggers systemic inflammatory features is not yet understood. However, LPI should be considered in the differential diagnosis of early-onset SLE, particularly in the absence of response to immunosuppressive therapy.
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spelling pubmed-81729842021-06-04 Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature Contreras, Josefina Longeri Ladino, Mabel A. Aránguiz, Katherine Mendez, Gonzalo P. Coban-Akdemir, Zeynep Yuan, Bo Gibbs, Richard A. Burrage, Lindsay C. Lupski, James R. Chinn, Ivan K. Vogel, Tiphanie P. Orange, Jordan S. Poli, M. Cecilia Front Pediatr Pediatrics Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-epithelial cells including macrophages. LPI is caused by biallelic, pathogenic variants in SLC7A7. The clinical phenotype of LPI includes failure to thrive and multi-system disease including hematologic, neurologic, pulmonary and renal manifestations. Individual presentations are extremely variable, often leading to misdiagnosis or delayed diagnosis. Here we describe a patient that clinically presented with immune dysregulation in the setting of early-onset systemic lupus erythematosus (SLE), including renal involvement, in whom an LPI diagnosis was suspected post-mortem based on exome sequencing analysis. A review of the literature was performed to provide an overview of the clinical spectrum and immune mechanisms involved in this disease. The precise mechanism by which ineffective amino acid transport triggers systemic inflammatory features is not yet understood. However, LPI should be considered in the differential diagnosis of early-onset SLE, particularly in the absence of response to immunosuppressive therapy. Frontiers Media S.A. 2021-05-20 /pmc/articles/PMC8172984/ /pubmed/34095032 http://dx.doi.org/10.3389/fped.2021.673957 Text en Copyright © 2021 Contreras, Ladino, Aránguiz, Mendez, Coban-Akdemir, Yuan, Gibbs, Burrage, Lupski, Chinn, Vogel, Orange and Poli. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Contreras, Josefina Longeri
Ladino, Mabel A.
Aránguiz, Katherine
Mendez, Gonzalo P.
Coban-Akdemir, Zeynep
Yuan, Bo
Gibbs, Richard A.
Burrage, Lindsay C.
Lupski, James R.
Chinn, Ivan K.
Vogel, Tiphanie P.
Orange, Jordan S.
Poli, M. Cecilia
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature
title Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature
title_full Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature
title_fullStr Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature
title_full_unstemmed Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature
title_short Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature
title_sort immune dysregulation mimicking systemic lupus erythematosus in a patient with lysinuric protein intolerance: case report and review of the literature
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172984/
https://www.ncbi.nlm.nih.gov/pubmed/34095032
http://dx.doi.org/10.3389/fped.2021.673957
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