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Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation

BACKGROUND: Primary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but it was...

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Autores principales: Mbarek, Ibtihel Benhaj, Mdimeg, Saoussen, Moussa, Amira, Zellama, Dorsaf, Kaarout, Hayat, Abdelmoula, Jaouida, Achour, Abdellatif, Abroug, Saoussen, Omezzine, Asma, Bouslama, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472968/
https://www.ncbi.nlm.nih.gov/pubmed/28619084
http://dx.doi.org/10.1186/s12882-017-0612-8
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author Mbarek, Ibtihel Benhaj
Mdimeg, Saoussen
Moussa, Amira
Zellama, Dorsaf
Kaarout, Hayat
Abdelmoula, Jaouida
Achour, Abdellatif
Abroug, Saoussen
Omezzine, Asma
Bouslama, Ali
author_facet Mbarek, Ibtihel Benhaj
Mdimeg, Saoussen
Moussa, Amira
Zellama, Dorsaf
Kaarout, Hayat
Abdelmoula, Jaouida
Achour, Abdellatif
Abroug, Saoussen
Omezzine, Asma
Bouslama, Ali
author_sort Mbarek, Ibtihel Benhaj
collection PubMed
description BACKGROUND: Primary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but it was uncommonly reported in adult patients. METHODS: Common mutations in AGXT were tested using PCR/RFLP technique in 111 patients (68 adult, 43 children) with suspected PH1. RESULTS: We described 16 cases (eight adult and eight children) with a 33-34InsC mutation with a median age of 24 years [6 months - 73 years]. All children were in end stage renal disease (ESRD) at the median age of 3 years due to lithiasis and/or nephrocalcinosis. Unfortunately, 75% of them died with a median age of 2.5 years. For the majority of adults only spontaneous elimination of urolithiasis were noted, 37.5% preserved until now a normal renal function and 62.5% of them reached ESRD at the median age of 55.8 ± 12.31 years old. CONCLUSION: In this study 33-34InsC mutation gives a controversial clinical effect in children and adults. The implication of other genetic and/or environmental factors can play a crucial role in determining the ultimate phenotype.
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spelling pubmed-54729682017-06-21 Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation Mbarek, Ibtihel Benhaj Mdimeg, Saoussen Moussa, Amira Zellama, Dorsaf Kaarout, Hayat Abdelmoula, Jaouida Achour, Abdellatif Abroug, Saoussen Omezzine, Asma Bouslama, Ali BMC Nephrol Research Article BACKGROUND: Primary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but it was uncommonly reported in adult patients. METHODS: Common mutations in AGXT were tested using PCR/RFLP technique in 111 patients (68 adult, 43 children) with suspected PH1. RESULTS: We described 16 cases (eight adult and eight children) with a 33-34InsC mutation with a median age of 24 years [6 months - 73 years]. All children were in end stage renal disease (ESRD) at the median age of 3 years due to lithiasis and/or nephrocalcinosis. Unfortunately, 75% of them died with a median age of 2.5 years. For the majority of adults only spontaneous elimination of urolithiasis were noted, 37.5% preserved until now a normal renal function and 62.5% of them reached ESRD at the median age of 55.8 ± 12.31 years old. CONCLUSION: In this study 33-34InsC mutation gives a controversial clinical effect in children and adults. The implication of other genetic and/or environmental factors can play a crucial role in determining the ultimate phenotype. BioMed Central 2017-06-15 /pmc/articles/PMC5472968/ /pubmed/28619084 http://dx.doi.org/10.1186/s12882-017-0612-8 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Mbarek, Ibtihel Benhaj
Mdimeg, Saoussen
Moussa, Amira
Zellama, Dorsaf
Kaarout, Hayat
Abdelmoula, Jaouida
Achour, Abdellatif
Abroug, Saoussen
Omezzine, Asma
Bouslama, Ali
Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation
title Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation
title_full Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation
title_fullStr Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation
title_full_unstemmed Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation
title_short Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation
title_sort unusual clinical outcome of primary hyperoxaluria type 1 in tunisian patients carrying 33_34insc mutation
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472968/
https://www.ncbi.nlm.nih.gov/pubmed/28619084
http://dx.doi.org/10.1186/s12882-017-0612-8
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