Abstract
BackgroundPrimary 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.MethodsCommon mutations in AGXT were tested using PCR/RFLP technique in 111 patients (68 adult, 43 children) with suspected PH1.ResultsWe 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.ConclusionIn 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.
Highlights
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
The kidney is the first organ affected by the massive rise in urinary oxalate through the genesis of recurrent stones and / or progressive nephrocalcinosis to finish in an early end-stage renal disease (ESRD) [1]
We reported a pediatric cases with severe clinical forms and adults patients with a mild and unusual clinical course of PH1 toward ESRD
Summary
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. Primary hyperoxaluria type 1 (PH1) is the common and severe form of hyperoxaluria This rare autosomal recessive inborn disease is a result of glyoxylate metabolism defect, caused by an absence, deficiency or mislocalization of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGXT). The kidney is the first organ affected by the massive rise in urinary oxalate through the genesis of recurrent stones and / or progressive nephrocalcinosis to finish in an early end-stage renal disease (ESRD) [1]. The presentation varies from infantile nephrocalcinosis and failure to thrive, as a result of renal impairment, to a recurrent or only occasional urolithiasis [4] usually one half of patients experience ESRD at the time of diagnosis and 80% develop ESRD by the age of 3 years. The diagnosis of patients affected during adulthood is often altered, over 50% of them reach ESRD at the time of diagnosis, and are characterized by occasional stone passage [5, 6]
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