OBJECTIVE: To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease. METHODS: Clinical data and peripheral venous blood samples were collected from the probands and their parents as well as fetal amniotic fluid cells. Genome DNA was extracted from the peripheral blood samples and amniotic fluid cells. Exons 32 and 61 of the PKHD1 gene were amplified with PCR and subjected to direct sequencing. RESULTS: The proband of pedigree 1 was found to carry c.4274T>G (p.Leu1425Arg) mutation in exon 32 and c.10445G>C (p.Arg3482Pro) mutation in exon 61 of the PKHD1 gene, which were inherited from her father and mother, respectively. The fetus has carried the c.4274T>G (p.Leu1425Arg) mutation. In pedigree 2, the wife and her husband had respectively carried a heterozygous c.5979_5981delTGG mutation and a c.9455delA mutation of the PKHD1 gene. No chromosomal aberration was found in the umbilical blood sample, but the genetic testing of their fetus was failed. Based on software prediction, all of the 4 mutations were predicted to be pathogenic. CONCLUSION PKHD1 c.4274T>G (p.Leu1425Arg), c.10445G>C (p.Arg3482Pro), c.5979_5981delTGG and c.9455delA were likely to be pathogenic mutations. The results have facilitated genetic counseling and prenatal diagnosis for the two pedigrees.
DNA Mutational Analysis ; Female ; Genetic Counseling ; Humans ; Mutation ; Pedigree ; Polycystic Kidney Diseases ; diagnosis ; genetics ; Pregnancy ; Prenatal Diagnosis ; Receptors, Cell Surface ; drug effects

Objective To explore the application and effect of case management model in patients with lung cancer .Methods Totally 88 patients with lung cancer were divided into the experimental group and the control group according the wards .The patients in the experimental group received a six-month case management program, while the patients in the control group received routine nursing and follow-up.The quality of life of patients was evaluated at the first day of admission after diagnosis , one month, three months and six months after the treatment.The changes of several indexes in half a year during the study were analyzed by repeated -measure analysis of variance and multiple factor analysis of variance .Results In the experimental group , the scores of the patients in physical functioning , role functioning and global health status were higher than that in the control group after six-month′s nursing care (F=19.449,13.291,4.929;P<0.05); the scores of patients in the experimental group in appetite loss , fatigue, dyspnea and pain were lower than that in the control group ( F=5.032,5.152,4.287,10.734;P<0.05).Conclusions The case management model can improve the quality of life of lung cancer patients , and it should be applied to the lung cancer patients with condition .