Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.

ABSTRACT:

Background

Atypical hemolytic uremic syndrome (aHUS) is caused by complement overactivation, and its presentation and prognosis differ according to the underlying molecular defects. The aim of this study was to characterize the genetic backgrounds of aHUS patients in Japan and to elucidate the associations between their genetic backgrounds, clinical findings, and outcomes.

Methods

We conducted a nationwide epidemiological survey of clinically diagnosed aHUS patients and examined 118 patients enrolled from 1998 to 2016 in Japan. We screened variants of seven genes related to complement and coagulation, as well as positivity for anti-CFH antibodies, and assessed clinical manifestations, laboratory findings, and clinical course.

Results

The most frequent genetic abnormal

SUBMITTER: Fujisawa M 

PROVIDER: S-EPMC6437120 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature