Simplified screening criteria for HNF1B analysis

Abstract

To the Editor: Indications for HNF1B analysis in subjects with congenital anomalies of kidneys and urinary tract (CAKUT) remain controversial and a frequently discussed subject. The large phenotypic variability and the high rate of de novo mutations partly explain this discussion. Recently, Faguer et al.1Faguer S. Chassaing N. Bandin F. et al.The HNF1B score is a simple tool to select patients for HNF1B gene analysis.Kidney Int. 2014; 86: 1007-1015Abstract Full Text Full Text PDF PubMed Scopus (72) Google Scholar have addressed this challenging issue by developing an exhaustive scoring system. This 17-item score contains clinical, biochemical, familial, and pathological findings in affected subjects. Although the authors claim that their score performed with a sensitivity of 98.2% and a NPV of 99%, we have some connotations to address. We recently applied the score of Faguer et al.1Faguer S. Chassaing N. Bandin F. et al.The HNF1B score is a simple tool to select patients for HNF1B gene analysis.Kidney Int. 2014; 86: 1007-1015Abstract Full Text Full Text PDF PubMed Scopus (72) Google Scholar in a cohort of children and adults identified with HNF1B mutations in a prospective cohort of patients with CAKUT2Raaijmakers A. Corveleyn A. Devriendt K. et al.Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.Nephrol Dial Transplant. 2014; (e-pub ahead of print 13 December 2014)PubMed Google Scholar and found that three patients would have been missed, as especially in children an exhaustive list of symptoms is not always (yet) present. In contrast, applying the simplified screening criteria excluding patients with unilateral abnormalities in the absence of major criteria (fetal hyperechogenic kidneys, multicystic dysplastic kidney, renal agenesis, hypoplastic or dysplastic kidneys, or cysts from unknown origin)2Raaijmakers A. Corveleyn A. Devriendt K. et al.Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.Nephrol Dial Transplant. 2014; (e-pub ahead of print 13 December 2014)PubMed Google Scholar would improve the detection rate from 10 to 19% and a 50% reduction in patients to be screened, in line with the improvement by the score of Faguer et al.1Faguer S. Chassaing N. Bandin F. et al.The HNF1B score is a simple tool to select patients for HNF1B gene analysis.Kidney Int. 2014; 86: 1007-1015Abstract Full Text Full Text PDF PubMed Scopus (72) Google Scholar In our opinion, an easy screening protocol proposed in our study is suitable for daily clinical practice, although we realize that both protocols should be applied to larger databases to substantiate their use and to validate their performance. This study was supported by the “Agency for Innovation, Science and Technology in Flanders (IWT) through the “SAFEPEDRUG” project (IWT/SBO 120033)”