title: [Gene analysis and literature review of autosomal recessive polycystic kidney disease].
abstract: OBJECTIVE
  The purpose of this study was to investigate the clinical and genetic characteristics of autosomal recessive polycystic kidney disease.
  
  
  METHODS
  Targeted sequencing was used on a children who was accurately diagnosed as autosomal recessive polycystic kidney disease in Peking Union Medical College Hospital to analyze the major clinical manifestations of the disease. An analysis of the PKHD1 genes was made on the patient, and then verified by polymerase chain reaction (PCR). And the related literature was reviewed also.
  
  
  RESULTS
  The patient was a boy, 2 years and 3 months old, and had abdominal distention for about one year. The abdominal ultrasound suggested diffuse liver lesions, mild intrahepatic bile duct dilatation, structure disturbance of both kidneys, appearance of multiple strong echo. The child was clinically highly suspected of polycystic kidney disease. Targeted sequencing showed two mutations in exon 32 and exon 50 of PKHD1 gene, respectively, c.4274T > G, leading to p.Leu1425Arg, c.7973T > A, leading to p.Leu2658Ter. Verified by PCR, the father has one mutation of c.4274T > G.
  
  
  CONCLUSIONS
  The clinical manifestations of autosomal recessive polycystic kidney disease are multiple renal cyst, cyst of liver and liver fibrosis, intrahepatic bile duct dilatation. Two mutations (c.4274T > G, c.7973T > A) in PKHD1 gene may be pathogenic.
authors: Department of Paediatrics, Peking Union Medical College Hospital and Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing.
authors: Jiang-wei
authors: JW
authors: Zhang
authors: Chen
authors: C
authors: Wang
authors: Chang-yan
authors: CY
authors: Wang
authors: Email: zhengqingqiu33@yahoo.com.cn.
authors: Zheng-qing
authors: ZQ
authors: Qiu
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging / Q000473:pathology; D008099:Liver / Q000000981:diagnostic imaging / Q000473:pathology*; D008103:Liver Cirrhosis / Q000473:pathology; D008297:Male; D009154:Mutation; D017044:Polycystic Kidney, Autosomal Recessive / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D011956:Receptors, Cell Surface / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D014463:Ultrasonography
chemical_list: C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface