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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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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. |
format | Online Article Text |
id | pubmed-5472968 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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