Open AccessCriteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract
Author(s) -
Anke Raaijmakers,
Anniek Corveleyn,
Koenraad Devriendt,
Theun Pieter van Tienoven,
Karel Allegaert,
Mieke Van Dyck,
Lambertus P. van den Heuvel,
Dirk Kuypers,
Kathleen Claes,
Djalila Mekahli,
Elena Levtchenko
Publication year - 2014
Publication title -
nephrology dialysis transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.654
H-Index - 168
eISSN - 1460-2385
pISSN - 0931-0509
DOI - 10.1093/ndt/gfu370
Subject(s) - medicine , hnf1b , urinary system , kidney , genitourinary system , kidney development , pancreas , prospective cohort study , hydronephrosis , hepatocyte nuclear factors , pediatrics , physiology , pathology , genetics , gene expression , embryonic stem cell , gene , homeobox , biology
Congenital anomalies of kidneys and urinary tract (CAKUT) are the most predominant developmental disorders comprising ∼20-30% of all anomalies identified in the prenatal period. Mutations in hepatocyte nuclear factor 1-beta (HNF-1β) involved in the development of kidneys, liver, pancreas and urogenital tract are currently the most frequent monogenetic cause of CAKUT found in 10-30% of patients depending on screening policy and study design. We aimed to validate criteria for analysis of HNF1B in a prospective cohort of paediatric and adult CAKUT patients.
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