Living Related Donor Kidney Transplantation in Atypical HUS: When Should It Be Considered?
Year: 2021
Type: article
Study design: Case Report
Abstract: Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy that manifests as hemolytic anemia, thrombocytopenia, and AKI. aHUS has been linked to the dysregulation of the alternative pathway of complement (1). In up to 60% of patients with aHUS, a genetic mutation known to cause dysregulation of complement system is found (2). Mutations in complement factor H ( CFH ), CD46 (membrane cofactor protein), complement factor I ( CFI ), thrombomodulin/CD141 ( THBD ), complement factor B ( CFB ), and C3 have been previously reported in patients with aHUS (3). People with mutations may not develop aHUS until adulthood (4). This incomplete penetrance indicates that a genetic mutation alone is insufficient to cause aHUS; instead, carriers of complement mutations require an additional trigger, such as pregnancy, viral infection, cancer, surgery, or medications, to progress to clinical disease of aHUS (5). As the type of mutation can influence both phenotype and rates of recurrence, genetic screening is advised pretransplant in patients with aHUS-related ESKD (2). However, there is no clear guidance for the genetic screening of family members who are potential living related donors. Historically, living related transplantation is actively discouraged in cases of aHUS due to increased risk of disease recurrence in recipients and risk of de novo disease in the donors (3,6). The recent advancement in genetics of aHUS challenges the recommendation against living related kidney transplantation. We present three patients with aHUS to explore whether living related kidney transplant can be considered as an option. …
Source: Kidney360
Institution: University of Wisconsin–Madison
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W3122218782