Abstract
BackgroundAtypical hemolytic uremic syndrome (aHUS) is a devastating disease with significant morbidity and mortality. Its genetic heterogeneity impacts its clinical presentation, progress, and outcome, and there is no consensus on its clinical management.MethodsTo identify the characteristics of aHUS in Turkish children, an industry-independent registry was established for data collection that includes both retrospective and prospective patients.ResultsIn total, 146 patients (62 boys, 84 girls) were enrolled; 53 patients (36.3%) were less than 2 years old at initial presentation. Among the 42 patients (37.1%) whose mutation screening was complete for CFH, CFI, MCP, CFB, C3, DGKE, and CHFR5 genes, underlying genetic abnormalities were uncovered in 34 patients (80.9%). Sixty-one patients (41.7%) had extrarenal involvement. During the acute stage, 33 patients (22.6%) received plasma therapy alone, among them 17 patients (51.5%) required dialysis, and 4 patients (12.1%) were still on dialysis at the time of discharge. In total, 103 patients (70.5%) received eculizumab therapy, 16 of whom (15.5%) received eculizumab as a first-line therapy. Plasma therapy was administered to 84.5% of the patients prior to eculizumab. In this group, renal replacement therapy was administered to 80 patients (77.7%) during the acute period. A total of 3 patients died during the acute stage. A total of 101 patients (77.7%) had a glomerular filtration rate >90 mL/min/1.73 m2 at the 2-year follow-up.ConclusionsThe Turkish aHUS registry will increase our knowledge of patients with aHUS who have different genetic backgrounds and will enable evaluation of the different treatment options and outcomes.
Highlights
Atypical hemolytic uremic syndrome is a devastating disease with significant morbidity and mortality
Investigators are aware that underlying genetic abnormalities of patients from different ethnic backgrounds differ and that the characteristics of Atypical hemolytic uremic syndrome (aHUS) may vary among different patient populations
This registry collects information on the demographic, clinical, laboratory, and genetic features of Turkish pediatric patients with aHUS, and affords researchers a unique opportunity to evaluate the treatment strategies used at the different centers and to assess their impact on the long-term prognosis of the patients
Summary
Atypical hemolytic uremic syndrome (aHUS) is a devastating disease with significant morbidity and mortality. One of the largest aHUS registries, the global aHUS registry, was established in 2012 with industry support; it includes multiple participating centers from 16 countries, not including Turkey This registry prospectively collects information on patient demographics, disease characteristics, and treatment modalities [16]. In Turkey, an industry-independent aHUS registry was established to collect data on pediatric patients with aHUS who were treated in the 26 pediatric nephrology centers This registry collects information on the demographic, clinical, laboratory, and genetic features of Turkish pediatric patients with aHUS, and affords researchers a unique opportunity to evaluate the treatment strategies used at the different centers and to assess their impact on the long-term prognosis of the patients. Specific analyses addressing specific questions (i.e. genetics, long-term prognosis etc.) will be conducted in our subsequent studies
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