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

  • Pediatric
  • Published:
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Abstract

Objectives

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.

Methods

The sonographic examinations in 34 children with HNF1β mutation were reviewed. Their sonographic characteristics were compared with renal function.

Results

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.

Conclusions

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.

Key Points

• 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.

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Abbreviations

US:

Ultrasound

CMD:

Corticomedullary differentiation

HNF1β:

Hepatocyte nuclear factor 1β

MDK:

Multicystic dysplastic kidney

ARPKD:

Autosomal recessive polycystic kidney disease

ADPKD:

Autosomal dominant polycystic kidney disease

PACS:

Picture archiving computerized system

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Acknowledgments

The authors wish to thank M. Cassart, A. Massez and N. Damry (Brussels, Belgium), J.N. Dacher (Rouen), C. Bellane-Chantelot, T. Ulinski and A. Bensman (Paris) for providing patient data.

The scientific guarantor of this publication is Fred Avni. The authors of this manuscript declare no relationships with any companies, whose products or services may be related to the subject matter of the article. The authors state that this work has not received any funding. One of the authors has significant statistical expertise (C. Langlois). No complex statistical methods were necessary for this paper. Institutional Review Board approval was not required because this was an observational retrospective study. Written informed consent was waived by the Institutional Review Board. Study subjects or cohorts have not been previously reported. Methodology: retrospective, observational, multicentre study.

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Authors and Affiliations

  1. Department of Paediatric Radiology, CHRU Jeanne de Flandre Hospital, Lille, France

    Fred E. Avni

  2. Department of Paediatric Nephrology, CHRU Jeanne de Flandre Hospital, Lille, France

    Annie Lahoche

  3. Department of Medical Biostatistics, Biostatistics Unit, Public Health Center, Regional House for Clinical Research, Lille, France

    Carole Langlois

  4. Department of Paediatric Imaging, A Trousseau Hospital, Paris, France

    Catherine Garel

  5. Department of Paediatric Nephrology, University Children’s Hospital, Brussels, Belgium

    Michele Hall

  6. Department of Paediatric Imaging, CHU Charles Nicolle Hospital, Rouen, France

    Pierre-Hugues Vivier

  7. Department of Paediatric Imaging, Jeanne de Flandre Hospital, Av Eugene Avinee, 59037, Lille-Cedex, France

    Fred E. Avni

  8. Hopital de l’Estuaire, Le Havre, France

    Pierre-Hugues Vivier

Authors
  1. Fred E. Avni
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  2. Annie Lahoche
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  3. Carole Langlois
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  4. Catherine Garel
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  5. Michele Hall
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  6. Pierre-Hugues Vivier
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Corresponding author

Correspondence to Fred E. Avni.

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Avni, F.E., Lahoche, A., Langlois, C. et al. Renal involvement in children with HNF1β mutation: Early sonographic appearances and long-term follow-up. Eur Radiol 25, 1479–1486 (2015). https://doi.org/10.1007/s00330-014-3550-x

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  • DOI: https://doi.org/10.1007/s00330-014-3550-x

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