title: Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation.
abstract: BACKGROUND
  Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary nephropathies in childhood. We report a neonate with ARPKD presenting with oligohydramnios, enlargement and increased echogenicity of both kidneys shown by antenatal sonograms after a 29-week gestation and died within the first few hours of life.
  
  
  METHODS
  The neonate was investigated pathologically post-mortem. PCR-DNA direct sequencing was performed to detect the exons of the PKHD1 gene for mutation analysis.
  
  
  RESULTS
  Autopsy findings of the kidney and liver confirmed the diagnostic hypothesis. PKHD1 mutation analysis revealed that there was a homozygous nonsense mutation c.9319C>T (p.R3107X), which was found to be pathogenic, in exon 58 in the neonate.
  
  
  CONCLUSIONS
  The recurrence of PKHD1 mutation c.9319C>T (p.R3107X) in the ARPKD population might be a good evidence that it is disease associated. Given the limitations of antenatal ultrasound, PKHD1 mutation analysis is helpful for accurate genetic counseling and early prenatal diagnosis.
authors: Department of Neonatology, the First Affiliated Hospital, Medical School of Xi an Jiaotong University/Ion Channel Disease Laboratory, Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education, Xi'an 710061, China. zhouxih@mail.xjtu.edu.cn
authors: Xi-Hui
authors: XH
authors: Zhou
authors: Zhi-Yan
authors: ZY
authors: Hui
authors: Yuan
authors: Y
authors: Li
mesh_terms: D018389:Codon, Nonsense; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D017044:Polycystic Kidney, Autosomal Recessive / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface
references: Hum Mutat. 2004 May;23(5):487-95
references: 15108281
references: Clin Genet. 2004 Jul;66(1):53-7
references: 15200508
references: Kidney Int. 2005 Mar;67(3):829-48
references: 15698423
references: Arch Pathol Lab Med. 2010 Apr;134(4):569-82
references: 20367309
references: J Bras Nefrol. 2010 Jul-Sep;32(3):263-7
references: 21103689
references: Nat Genet. 2002 Mar;30(3):259-69
references: 11919560
references: AJR Am J Roentgenol. 2005 May;184(5):1630-3
references: 15855129
references: J Am Soc Nephrol. 2003 Jan;14(1):76-89
references: 12506140
references: J Pediatr. 2006 Aug;149(2):159-64
references: 16887426
references: J Am Soc Nephrol. 2007 May;18(5):1374-80
references: 17429049