Renal involvement in children with HNF1[beta] mutation: Early sonographic appearances and long-term follow-up

• Published in: European radiology Vol. 25; no. 5; p. 1479
• Main Authors: Avni, Fred E, Lahoche, Annie, Langlois, Carole, Garel, Catherine, Hall, Michele, Vivier, Pierre-hugues
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer Nature B.V 01.05.2015
• Subjects: Cysts; Hospitals; Kidney diseases; Mutation; Nephrology; Patients; Pediatrics; Questionnaires; Ultrasonic imaging; Belgium; United States > US; France
• ISSN: 0938-7994; 1432-1084
• DOI: 10.1007/s00330-014-3550-x

The aim was to report ultrasound (US) patterns of hepatocyte nuclear factor (HNF1[beta]) mutation throughout childhood and determine whether ultrasound could be predictive of renal failure. The sonographic examinations in 34 children with HNF1[beta] 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, HNF1[beta] 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. * HNF1[beta] 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.