title: Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.
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.
  
  
  METHODS
  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 causextremely severe disease resembling autosomal recessive polycystic kidney disease (ARPKD) which can result indiagnostic confusion. Accurate diagnosis is essential forgenetic counseling [corrected].
authors.affiliation: Regional Paediatric Nephro-Urology Unit, University Hospital Southampton, Tremona Road, Southampton, SO16 6YD, UK, rodney.gilbert@uhs.nhs.uk.
authors.forename: Rodney D
authors.initials: RD
authors.lastname: Gilbert
authors.forename: Priya
authors.initials: P
authors.lastname: Sukhtankar
authors.forename: Katherine
authors.initials: K
authors.lastname: Lachlan
authors.forename: Darren J
authors.initials: DJ
authors.lastname: Fowler
mesh_terms: D000142:Acidosis, Respiratory / Q000209:etiology; D000328:Adult; D001049:Apnea / Q000209:etiology; D002585:Cesarean Section; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007677:Kidney Function Tests; D008297:Male; D009154:Mutation / Q000235:genetics; D009392:Nephrectomy; D009693:Nucleic Acid Hybridization; D017044:Polycystic Kidney, Autosomal Recessive / Q000473:pathology*; D011225:Pre-Eclampsia; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011659:Pulmonary Gas Exchange; D018805:Sepsis / Q000209:etiology; D050396:TRPP Cation Channels / Q000172:deficiency* / Q000235:genetics*
chemical_list: D050396:TRPP Cation Channels