Xi-Hui Zhou1, Zhi-Yan Hui, Yuan Li. 1. 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
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.
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: Meral Gunay-Aygun; Ellis D Avner; Robert L Bacallao; Peter L Choyke; Joseph T Flynn; Gregory G Germino; Lisa Guay-Woodford; Peter Harris; Theo Heller; Julie Ingelfinger; Frederick Kaskel; Robert Kleta; Nicholas F LaRusso; Parvathi Mohan; Gregory J Pazour; Benjamin L Shneider; Vicente E Torres; Patricia Wilson; Colleen Zak; Jing Zhou; William A Gahl Journal: J Pediatr Date: 2006-08 Impact factor: 4.406
Authors: Christopher J Ward; Marie C Hogan; Sandro Rossetti; Denise Walker; Tam Sneddon; Xiaofang Wang; Vicky Kubly; Julie M Cunningham; Robert Bacallao; Masahiko Ishibashi; Dawn S Milliner; Vicente E Torres; Peter C Harris Journal: Nat Genet Date: 2002-02-04 Impact factor: 38.330
Authors: Carsten Bergmann; Jan Senderek; Ellen Windelen; Fabian Küpper; Iris Middeldorf; Frank Schneider; Christian Dornia; Sabine Rudnik-Schöneborn; Martin Konrad; Claus P Schmitt; Tomas Seeman; Thomas J Neuhaus; Udo Vester; Jutta Kirfel; Reinhard Büttner; Klaus Zerres Journal: Kidney Int Date: 2005-03 Impact factor: 10.612
Authors: Carsten Bergmann; Jan Senderek; Frank Schneider; Christian Dornia; Fabian Küpper; Thomas Eggermann; Sabine Rudnik-Schöneborn; Jutta Kirfel; Markus Moser; Reinhard Büttner; Klaus Zerres Journal: Hum Mutat Date: 2004-05 Impact factor: 4.878
Authors: K Zerres; J Senderek; S Rudnik-Schöneborn; T Eggermann; J Kunze; T Mononen; H Kääriäinen; J Kirfel; M Moser; R Buettner; C Bergmann Journal: Clin Genet Date: 2004-07 Impact factor: 4.438
Authors: Carsten Bergmann; Jan Senderek; Beate Sedlacek; Ioannis Pegiazoglou; Patricia Puglia; Thomas Eggermann; Sabine Rudnik-Schöneborn; Laszlo Furu; Luiz F Onuchic; Monica De Baca; Gregory G Germino; Lisa Guay-Woodford; Stefan Somlo; Markus Moser; Reinhard Büttner; Klaus Zerres Journal: J Am Soc Nephrol Date: 2003-01 Impact factor: 10.121