Publications by authors named "N Kollmar"
Pyruvate kinase deficiency (PKD) is the most common cause of congenital nonspherocytic hemolytic anemia. Although recognition of the disease spectrum has recently expanded, data describing its impact on health-related quality of life (HRQoL) are limited. In this prospective international cohort of 254 patients (131 adults and 123 children) with PKD, we used validated measures to assess the impact of disease on HRQoL (EuroQol 5-Dimension Questionnaire, Pediatric Quality of Life Inventory Generic Core Scale version 4.
View Article and Find Full Text PDFBackground: Pyruvate kinase deficiency (PKD) is a rare, autosomal recessive red blood cell enzyme disorder, which leads to lifelong hemolytic anemia and associated complications from the disease and its management.
Methods: An international, multicenter registry enrolled 124 individuals younger than 18 years old with molecularly confirmed PKD from 29 centers. Retrospective and prospective clinical data were collected.
Article Synopsis
- Pyruvate kinase (PK) deficiency is a rare genetic blood disorder caused by mutations in the PKLR gene; this study analyzed the genetic features of 257 patients.
- A total of 127 pathogenic variants were identified, with significant findings including the most common mutations being p.R510Q and p.R486W, and 21% of patients having previously unreported variants.
- Patients with certain mutations exhibited more severe symptoms and complications, including lower hemoglobin levels and higher rates of serious health issues, while pregnancy outcomes were consistent across different genetic backgrounds.