BACKGROUND: There are few studies on the genotypes and phenotypes of autosomal recessive polycystic kidney disease in Chinese patients. METHODS: PKHD1 mutations in three children were detected with PCR and direct sequencing, and their clinical data were retrospectively reviewed. RESULTS: All of the children had bilateral enlarged polycystic kidneys, congenital hepatic fibrosis and intrahepatic bile duct dilatation. One of three children had classical multiple small cysts throughout the kidneys, and the other two children had bilateral multiple renal cysts of various sizes. Two children had abnormally shaped livers, portal hypertension and splenomegaly. Two heterozygous mutations (p.T36M, and p.P137S) were detected in Patient 1 and two were detected in Patient 2 (p.L2658X and p.V836A). One heterozygous mutation (p.L1425R) was detected in Patient 3. CONCLUSIONS: The study shows that renal and liver phenotypes of the Chinese children varied. Five mutations were identified in the three children, three of which were novel mutations.
BACKGROUND: There are few studies on the genotypes and phenotypes of autosomal recessive polycystic kidney disease in Chinese patients. METHODS:PKHD1 mutations in three children were detected with PCR and direct sequencing, and their clinical data were retrospectively reviewed. RESULTS: All of the children had bilateral enlarged polycystic kidneys, congenital hepatic fibrosis and intrahepatic bile duct dilatation. One of three children had classical multiple small cysts throughout the kidneys, and the other two children had bilateral multiple renal cysts of various sizes. Two children had abnormally shaped livers, portal hypertension and splenomegaly. Two heterozygous mutations (p.T36M, and p.P137S) were detected in Patient 1 and two were detected in Patient 2 (p.L2658X and p.V836A). One heterozygous mutation (p.L1425R) was detected in Patient 3. CONCLUSIONS: The study shows that renal and liver phenotypes of the Chinese children varied. Five mutations were identified in the three children, three of which were novel mutations.
Authors: A M Sharp; L M Messiaen; G Page; C Antignac; M-C Gubler; L F Onuchic; S Somlo; G G Germino; L M Guay-Woodford Journal: J Med Genet Date: 2005-04 Impact factor: 6.318
Authors: Luiz F Onuchic; Laszlo Furu; Yasuyuki Nagasawa; Xiaoying Hou; Thomas Eggermann; Zhiyong Ren; Carsten Bergmann; Jan Senderek; Ernie Esquivel; Raoul Zeltner; Sabine Rudnik-Schöneborn; Michael Mrug; William Sweeney; Ellis D Avner; Klaus Zerres; Lisa M Guay-Woodford; Stefan Somlo; Gregory G Germino Journal: Am J Hum Genet Date: 2002-03-15 Impact factor: 11.025
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; Fabian Küpper; Frank Schneider; Christian Dornia; Ellen Windelen; Thomas Eggermann; Sabine Rudnik-Schöneborn; Jutta Kirfel; Laszlo Furu; Luiz F Onuchic; Sandro Rossetti; Peter C Harris; Stefan Somlo; Lisa Guay-Woodford; Gregory G Germino; Markus Moser; Reinhard Büttner; Klaus Zerres Journal: Hum Mutat Date: 2004-05 Impact factor: 4.878
Authors: Magdalena Adeva; Mounif El-Youssef; Sandro Rossetti; Patrick S Kamath; Vickie Kubly; Mark B Consugar; Dawn M Milliner; Bernard F King; Vicente E Torres; Peter C Harris Journal: Medicine (Baltimore) Date: 2006-01 Impact factor: 1.889