Pediatric Nephrology

, Volume 28, Issue 11, pp 2217–2220

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease

Authors

    • Regional Paediatric Nephro-Urology UnitUniversity Hospital Southampton
    • School of MedicineUniversity of Southampton
  • Priya Sukhtankar
    • Regional Paediatric Nephro-Urology UnitUniversity Hospital Southampton
    • School of MedicineUniversity of Southampton
  • Katherine Lachlan
    • Wessex Clinical Genetics ServiceUniversity Hospital Southampton
    • Human Genetics & Genomic Medicine, Faculty of MedicineUniversity of Southampton
  • Darren J. Fowler
    • Cell Pathology DepartmentUniversity Hospital Southampton
Brief Report

DOI: 10.1007/s00467-013-2484-x

Cite this article as:
Gilbert, R.D., Sukhtankar, P., Lachlan, K. et al. Pediatr Nephrol (2013) 28: 2217. doi:10.1007/s00467-013-2484-x

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 diseaseAutosomal recessive polycystic kidney diseaseAntenatalHypomorphic allele

Copyright information

© IPNA 2013