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Atypical Hemolytic Uremic Syndrome Triggered by Acute Pancreatitis in a Patient with a Membrane Cofactor Protein
Kosuke Mochizuki1, Naohiro Toda1, Masaaki Fujita2
1Department of Nephrology, Kansai Electric Power Hospital, Japan.
Abstract:
Atypical hemolytic uremic syndrome (aHUS) is a type of HUS. We herein report a case of aHUS triggered by pancreatitis in a patient with a heterozygous variant of membrane cofactor protein (MCP; P165S), a complement-related gene. Plasma exchange therapy and hemodialysis improved thrombocytopenia and anemia without leading to end-stage kidney disease. This MCP heterozygous variant was insufficient to cause aHUS on its own. Pancreatitis, in addition to a genetic background with a MCP heterozygous variant, led to the manifestation of aHUS. This case supports the "multiple hit theory" that several factors are required for the manifestation of aHUS.
Insights
Atypical hemolytic uremic syndrome (aHUS) can be triggered by pancreatitis in individuals with a specific genetic variant. This case highlights that multiple factors are often necessary for aHUS development.
Area of Science:
- Nephrology
- Genetics
- Hematology
Background:
- Atypical hemolytic uremic syndrome (aHUS) is a rare, severe thrombotic microangiopathy.
- Genetic factors, particularly complement gene variants, are implicated in aHUS pathogenesis.
- The role of environmental triggers in aHUS manifestation remains an area of active research.
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