Renal involvement in children with HNF1β mutation: early sonographic appearances and long-term follow-up.

Abstract

The aim was to report ultrasound (US) patterns of hepatocyte nuclear factor (HNF1β) mutation throughout childhood and determine whether ultrasound could be predictive of renal failure. The sonographic examinations in 34 children with HNF1β mutation were reviewed. Their sonographic characteristics were compared with renal function. At first postnatal examination renal length was normal in 44 % of the patients, decreased in 24 %, increased in 12 % and asymmetrical in 20 %. Renal cortex was hyperechoic in 97 %. Corticomedullary differentiation was abnormal in 59 %. Cysts were present in 77 % of patients. Cysts were mostly subcapsular (64 %). Twenty-eight patients had follow-up examinations. A modification of the sonographic appearance was observed in 91 % of patients. Eight patients (23 %) had renal failure; no specific US pattern could be demonstrated. At birth, HNF1β mutation was typically associated on US with the combination of hyperechoic, normal-sized kidneys with abnormal corticomedullary differentiation (CMD) and multiple cortical cysts. In older children, the appearances can be variable: kidneys may have decreased (32 %) or normal size (33 %); they are usually hyperechoic (50 %) with abnormal CMD (78 %) and (sub)cortical cysts (71 %). No pattern appears to be associated with renal failure. • HNF1β mutations determine significant anomalies of sonographic appearances of kidneys in children. • Kidneys appear mainly hyperechoic, with or without CMD and with subcapsular cysts. • The US pattern may evolve throughout childhood in the same patient. • No correlation was found between any sonographic pattern and renal failure.