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The HNF1B score is a simple tool to select patients for HNF1B gene analysis

Faguer, Stanislas ; Chassaing, Nicolas ; Bandin, Flavio ; Prouheze, Cathie ; Garnier, Arnaud ; Casemayou, Audrey ; Huart, Antoine ; Schanstra, Joost P. ; Calvas, Patrick ; Decramer, Stéphane ; Chauveau, Dominique

Kidney international, 2014-11, Vol.86 (5), p.1007-1015 [Periódico revisado por pares]

United States: Elsevier Inc

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Título:
The HNF1B score is a simple tool to select patients for HNF1B gene analysis
Autor: Faguer, Stanislas ; Chassaing, Nicolas ; Bandin, Flavio ; Prouheze, Cathie ; Garnier, Arnaud ; Casemayou, Audrey ; Huart, Antoine ; Schanstra, Joost P. ; Calvas, Patrick ; Decramer, Stéphane ; Chauveau, Dominique
Assuntos: Area Under Curve ; Biomarkers - blood ; Blood Chemical Analysis ; cystic kidneys ; Decision Support Techniques ; Diagnostic Imaging ; diagnostic methods ; DNA Mutational Analysis ; France ; Gene Frequency ; Genetic Predisposition to Disease ; Hepatocyte Nuclear Factor 1-beta - genetics ; Heredity ; HNF1B ; Human health and pathology ; Humans ; Infectious diseases ; inherited nephropathy ; Kidney Diseases - blood ; Kidney Diseases - diagnosis ; Kidney Diseases - genetics ; Kidney Diseases - pathology ; Life Sciences ; Liver Function Tests ; Mutation ; Patient Selection ; Pedigree ; Phenotype ; Predictive Value of Tests ; Reproducibility of Results ; Risk Factors ; ROC Curve ; score
É parte de: Kidney international, 2014-11, Vol.86 (5), p.1007-1015
Notas: ObjectType-Article-1
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Descrição: HNF1B-related disease is an emerging condition characterized by an autosomal-dominant inheritance, a 50% rate of de novo mutations, and a highly variable phenotype (renal involvement, maturity-onset diabetes of the young type 5, pancreatic hypoplasia, and urogenital tract and liver test abnormalities). Given the current lack of pathognomonic characteristics and the wide overlap with other conditions, a genetic test is the diagnostic gold standard. However, pre-genetic screening is mandatory because genetic testing has substantial costs. Our aim was to develop a HNF1B score, based on clinical, imaging, and biological variables, as a pivotal tool for rational genetic testing. A score was created using a weighted combination of the most discriminative characteristics based on the frequency and specificity in published series. The HNF1B score is calculated upon 17 items including antenatal discovery, family history, and organ involvement (kidney, pancreas, liver, and genital tract). The performance of the score was assessed by a ROC curve analysis in a 433-individual cohort containing 56 HNF1B cases. The HNF1B score efficiently and significantly discriminated between mutated and nonmutated cases (AUC 0.78). The optimal cutoff threshold for the negative predictive value to rule out HNF1B mutations in a suspected individual was 8 (sensitivity 98.2%, specificity 41.1%, and negative predictive value over 99%). Thus, the HNF1B score is a simple and accurate tool to provide a more rational approach to select patients for HNF1B screening.
Editor: United States: Elsevier Inc
Idioma: Inglês

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The HNF1B score is a simple tool to select patients for HNF1B gene analysis

Faguer, Stanislas ; Chassaing, Nicolas ; Bandin, Flavio ; Prouheze, Cathie ; Garnier, Arnaud ; Casemayou, Audrey ; Huart, Antoine ; Schanstra, Joost P. ; Calvas, Patrick ; Decramer, Stéphane ; Chauveau, Dominique

United States: Elsevier Inc

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