Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type 1 displays a heterogeneous phenotype , likely to be affected by genetic and non-genetic factors , including timeliness of diagnosis and quality of care . As previous genotype-phenotype studies were hampered by limited patient numbers the European OxalEurope Consortium was constituted . This preliminary retrospective report is based on 526 patients of which 410 have the AGXT genotype defined . We grouped mutations by the predicted effect as null , missense leading to mistargeting (G 170 R ), and other missense , and analyzed their phenotypic correlations . Median age of end-stage renal disease increased from 9 .9 for 88 homozygous null patients , 11 .5 for 42 heterozygous null /missense , 16 .9 for 116 homozygous missense patients , 25 .1 for 61 G 170 R /null patients , 31 .2 for 32 G 170 R /missense patients , and 33 .9 years for 71 homozygous G 170 R patients . The outcome of some recurrent missense mutations (p .I 244 T , p .F 152 I , p .M 195 R , p .D 201 E , p .S 81 L , p .R 36 C ) and an unprecedented number of G 170 R homozygotes is described in detail . Diagnosis is still delayed and actions aimed at increasing awareness of primary hyperoxaluria type 1 are recommended . Thus , in addition to G 170 R , other causative mutations are associated with later onset of end-stage renal disease . The OxalEurope registry will provide necessary tools for characterizing those genetic and non-genetic factors through a combination of genetic , functional , and biostatistical approaches .Kidney International advance online publication , 2 July 2014 ; doi :10 .1038 /ki .2014 .222 .

Diseases
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Diseases presenting "previous genotype-phenotype studies" symptom

primary hyperoxaluria type 1

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