Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that is characterized by enlarged kidneys and congenital hepatic fibrosis. The clinical spectrum of this condition shows wide variation. Approximately 30-50% of affected individuals die in the neonatal period, while others survive into adulthood. ARPKD is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6p12, which consists of 86 exons variably assembled into many alternatively spliced transcripts. We report a case of a pathogenic PKHD1 frameshift mutation, c.889_931del43, which was identified using direct full sequencing, associated with enlarged cystic kidneys and dilatation of intrahepatic bile duct, as observed on imaging studies.

Changes in Patient Characteristics of Infective Endocarditis with Congenital Heart Disease: 25 Years Experience in a Single Institution

BACKGROUND AND OBJECTIVES: The profile of infective endocarditis (IE) has changed and is now showing an increasing prevalence of IE among congenital heart disease (CHD) patients. We studied the change of clinical profiles of IE over the past 25 years in patients with CHD at a single institution. SUBJECTS AND METHODS: We reviewed medical records retrospectively for 325 patients diagnosed with IE between January 1, 1987, and March 31, 2012. We analyzed and compared the differences in patient characteristics and outcomes between 1987-2000 (group A) and 2001-2012 (group B). RESULTS: Over the 25-year period, 93 cases of IE in CHD patients were diagnosed (59 cases in group A and 34 cases in group B). Ventricular septal defect was the most common underlying cardiac disease observed during the entire period. The most common causative pathogen was Streptococcus in both groups. Group A contained 16 cases (27.1%) that had undergone cardiac surgery, whereas this number was 19 (55.8%) in group B. The number of patients who had undergone palliative care or surgery using prosthetic materials was higher among group B patients (p<0.001). Surgical procedures due to uncontrolled infection were performed in three cases in group A and 10 cases in group B. CONCLUSION: Infective endocarditis and CHD show a close correlation, and the profile of IE patients can change in line with an increase in the survival rate of patients with complex CHD and the improvement of surgical techniques. Ongoing reassessment and the systematic management of these patients is crucial in the prevention and treatment of IE.