Pediatric Nephrology

, Volume 28, Issue 11, pp 2217–2220

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease

  • Rodney D. Gilbert
  • Priya Sukhtankar
  • Katherine Lachlan
  • Darren J. Fowler
Brief Report

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.

Keywords

Autosomal dominant polycystic kidney disease Autosomal recessive polycystic kidney disease Antenatal Hypomorphic allele 

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Copyright information

© IPNA 2013

Authors and Affiliations

  • Rodney D. Gilbert
    • 1
    • 2
  • Priya Sukhtankar
    • 1
    • 2
  • Katherine Lachlan
    • 3
    • 4
  • Darren J. Fowler
    • 5
  1. 1.Regional Paediatric Nephro-Urology UnitUniversity Hospital SouthamptonSouthamptonUK
  2. 2.School of MedicineUniversity of SouthamptonSouthamptonUK
  3. 3.Wessex Clinical Genetics ServiceUniversity Hospital SouthamptonSouthamptonUK
  4. 4.Human Genetics & Genomic Medicine, Faculty of MedicineUniversity of SouthamptonSouthamptonUK
  5. 5.Cell Pathology DepartmentUniversity Hospital SouthamptonSouthamptonUK

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