Universität zu Köln

Mandrile, Giorgia ORCID: 0000-0003-0849-2225, van Woerden, Christiaan S., Berchialla, Paola ORCID: 0000-0001-5835-5638, Beck, Bodo B., Bourdain, Cecile Acquaviva, Hulton, Sally-Anne and Rumsby, Gill (2014). Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. Kidney Int., 86 (6). S. 1197 - 1205. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1523-1755

Full text not available from this repository.

Abstract

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 (G170R), 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 G170R/null patients, 31.2 for 32 G170R/missense patients, and 33.9 years for 71 homozygous G170R patients. The outcome of some recurrent missense mutations (p.I244T, p.F152I, p.M195R, p.D201E, p.S81L, p.R36C) and an unprecedented number of G170R 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 G170R, 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Mandrile, Giorgia UNSPECIFIED orcid.org/0000-0003-0849-2225 UNSPECIFIED van Woerden, Christiaan S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Berchialla, Paola UNSPECIFIED orcid.org/0000-0001-5835-5638 UNSPECIFIED Beck, Bodo B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bourdain, Cecile Acquaviva UNSPECIFIED UNSPECIFIED UNSPECIFIED Hulton, Sally-Anne UNSPECIFIED UNSPECIFIED UNSPECIFIED Rumsby, Gill UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-422000
DOI:	10.1038/ki.2014.222
Journal or Publication Title:	Kidney Int.
Volume:	86
Number:	6
Page Range:	S. 1197 - 1205
Date:	2014
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	NEW YORK
ISSN:	1523-1755
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ALANINE-GLYOXYLATE AMINOTRANSFERASE; I PRIMARY HYPEROXALURIA; DIAGNOSIS; OXALATE; DISEASE; PYRIDOXINE; GENE; PHENOTYPE; EXCRETION; GENOTYPE Multiple languages Urology & Nephrology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/42200