A Case of Atypical Hemolytic Uremic Syndrome Triggered by Acute Pancreatitis in a Patient with a Membrane Cofactor Protein (CD46) Genetic Variant

Kosuke Mochizuki; Naohiro Toda; Masaaki Fujita; Satoshi Kurahashi; Hisako Hirashima; Kazuki Yoshioka; Tomoya Kitagawa; Akira Ishii; Toshiyuki Komiya

doi:10.2169/internalmedicine.3169-23

Kosuke Mochizuki, Naohiro Toda, Masaaki Fujita, Satoshi Kurahashi, Hisako Hirashima, Kazuki Yoshioka, Tomoya Kitagawa, Akira Ishii, Toshiyuki Komiya

Author information

Kosuke Mochizuki
Department of Nephrology, Kansai Electric Power Hospital, Japan
Naohiro Toda
Department of Nephrology, Kansai Electric Power Hospital, Japan
Masaaki Fujita
Department of Rheumatology, Kansai Electric Power Hospital, Japan
Satoshi Kurahashi
Department of Nephrology, Kansai Electric Power Hospital, Japan
Hisako Hirashima
Department of Nephrology, Kansai Electric Power Hospital, Japan
Kazuki Yoshioka
Department of Hematology, Kansai Electric Power Hospital, Japan
Tomoya Kitagawa
Department of Hematology, Kansai Electric Power Hospital, Japan
Akira Ishii
Department of Nephrology, Kansai Electric Power Hospital, Japan
Toshiyuki Komiya
Department of Nephrology, Kansai Electric Power Hospital, Japan

Keywords: atypical HUS, MCP variant, multiple hit theory, pancreatitis

JOURNAL OPEN ACCESS Advance online publication

Article ID: 3169-23

DOI https://doi.org/10.2169/internalmedicine.3169-23

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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.

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