An extremely rare splice site mutation in the gene encoding complement factor I in a patient with atypical hemolytic uremic syndrome

Keyphrases

• Complement Factors 100%
• Splicing mutation 100%
• Atypical Hemolytic Uremic Syndrome (aHUS) 100%
• Thrombotic Thrombocytopenic Purpura 42%
• Eculizumab 42%
• Creatinine Level 28%
• Acute Kidney Injury 28%
• Therapeutic Plasma Exchange 28%
• 40 Years Old 14%
• Thrombocytopenia 14%
• Hematological Diseases 14%
• Young Males 14%
• Rare Diseases 14%
• Activity Assay 14%
• Microangiopathic Hemolytic Anemia 14%
• Hematologic 14%
• Laboratory Results 14%
• Inhibition Assay 14%
• Renal Function Improvement 14%
• Next-generation Sequencing 14%
• Genetic mutation 14%
• Rapid Diagnosis 14%
• Genetic Testing 14%
• Kidney Biopsy 14%
• Splice Site 14%
• ADAMTS13 14%
• Timely Treatment 14%
• Heterozygous mutation 14%
• Rare mutation 14%
• Maintenance Dosage 14%
• ADAMTS13 Protein 14%

Medicine and Dentistry

• Atypical Hemolytic Uremic Syndrome 100%
• Complement Factor I 100%
• Thrombotic Thrombocytopenic Purpura 57%
• Eculizumab 42%
• Acute Kidney Injury 28%
• Creatinine 28%
• Plasma Exchange 28%
• Diseases 14%
• Thrombocytopenia 14%
• Recurrent Disease 14%
• Rare Disease 14%
• Kidney Function 14%
• Renal Biopsy 14%
• Gene Mutation 14%
• Genetic Screening 14%
• Blood Disorder 14%
• Von Willebrand Factor Cleaving Proteinase 14%
• Next Generation Sequencing 14%
• Maintenance Drug Dose 14%