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Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease

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An Erratum to this article was published on 09 August 2013

Abstract

Background

Dominant polycystic kidney disease is common and usually presents clinically in adulthood. Recessive polycystic kidney disease is much less common and frequently presents antenatally or in the neonatal period with severe renal involvement. These are usually thought of as clinically distinct entities but diagnostic confusion is not infrequent.

Case-diagnosis/treatment

We describe an infant with antenatally diagnosed massive renal enlargement and oligohydramnios with no resolvable cysts on ultrasound scanning. He underwent bilateral nephrectomy because of respiratory compromise and poor renal function but died subsequently of overwhelming sepsis. Genetic analysis revealed that he had bilineal inheritance of abnormalities of PKD1 and no demonstrable abnormalities of PKD2 or PKHD1.

Conclusions

Biallelic inheritance of abnormalities of PKD1 may cause extremely severe disease resembling autosomal dominant polycystic kidney disease (ADPKD) which can result in diagnostic confusion. Accurate diagnosis is essential for genetic counseling.

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Fig. 1

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Acknowledgments

Debbie Travis, Wendy Lewis, Rebecca Pollitt, Ann Dalton. Sheffield Diagnostic Genetic Service Sheffield Children’s NHS Foundation Trust, S10 2TH sheffieldchildrens.nhs.uk/SDGS

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Authors and Affiliations

  1. Regional Paediatric Nephro-Urology Unit, University Hospital Southampton, Tremona Road, Southampton, SO16 6YD, UK

    Rodney D. Gilbert & Priya Sukhtankar

  2. School of Medicine, University of Southampton, Southampton, UK

    Rodney D. Gilbert & Priya Sukhtankar

  3. Wessex Clinical Genetics Service, University Hospital Southampton, Southampton, UK

    Katherine Lachlan

  4. Human Genetics & Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK

    Katherine Lachlan

  5. Cell Pathology Department, University Hospital Southampton, Tremona Road, Southampton, UK

    Darren J. Fowler

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  1. Rodney D. Gilbert
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  2. Priya Sukhtankar
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  4. Darren J. Fowler
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Correspondence to Rodney D. Gilbert.

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Gilbert, R.D., Sukhtankar, P., Lachlan, K. et al. Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease. Pediatr Nephrol 28, 2217–2220 (2013). https://doi.org/10.1007/s00467-013-2484-x

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  • DOI: https://doi.org/10.1007/s00467-013-2484-x

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