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Neonatal polycystic kidney disease: a novel variant
  1. Catherine Finnegan1,
  2. Claire Murphy2 and
  3. Fionnuala Breathnach1
  1. 1Obstetrics and Gynaecology, Royal College of Surgeons in Ireland, Dublin, Ireland
  2. 2Departement of Paediatrics, Royal College of Surgeons in Ireland, Dublin, Ireland
  1. Correspondence to Dr Catherine Finnegan; catherinelfinnegan1{at}


Polycystic kidney disease (PKD) is a condition typified by multiple renal cysts and renal enlargement. Classification is usually determined by mode of inheritance—autosomal dominant PKD (ADPKD) or autosomal recessive PKD (ARPKD). ARPKD frequently presents in fetal life, but here we report a rare case of a family with two siblings diagnosed with ADPKD manifesting in utero with novel genetic findings. During the first pregnancy, enlarged cystic kidneys were noted at the gestational age (GA) of 18 weeks, which became progressively larger and anyhdramnios ensued by GA of 25 weeks. The couple opted to terminate the pregnancy. The second pregnancy similarly presented with bilateral enlarged cystic kidneys, but amniotic fluid remained normal throughout and she delivered at GA of 36 weeks. Genetic testing revealed the fetus to be heterozygous in AD PKD1, which is known to cause ADPKD and heterozygous for a hypomorphic allele for ADPKD of uncertain significance. The fetus was also found to be heterozygous in the AR PKHD1 gene with a variant not previously described in the literature. Where fetal features consistent with ARPKD are identified in the setting of familial ADPKD, this fetal manifestation of ADPKD, resulting from combined variants in the PKD1 gene, should be considered.

  • pregnancy
  • renal medicine
  • materno-fetal medicine

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  • Contributors CF performed literature review and wrote the article. CM provided the neonatal information and outcome. FB planned the article and is the treating physician of the mother.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer-reviewed.