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

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

Abstract 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...

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Bibliographic Details
Main Authors: Ibtihel Benhaj Mbarek, Saoussen Mdimeg, Amira Moussa, Dorsaf Zellama, Hayat Kaarout, Jaouida Abdelmoula, Abdellatif Achour, Saoussen Abroug, Asma Omezzine, Ali Bouslama
Format: Article
Language:English
Published: BMC 2017-06-01
Series:BMC Nephrology
Subjects:
Primary hyperoxaluria type 1
Tunisian population
Urolithiasis
33-34InsC mutation
Online Access:http://link.springer.com/article/10.1186/s12882-017-0612-8

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http://link.springer.com/article/10.1186/s12882-017-0612-8

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