Genetic testing in the evaluation of recipient candidates and living kidney donors

BK Lee, CP Thomas - Current opinion in nephrology and …, 2024 - journals.lww.com
The expansion of genomics into transplant medicine can provide improved diagnosis in
transplant candidates and potentially disease prediction in living donors. Transplant …

Hot Spot of Complement Factor I Rare Variant p. Ile357Met in Patients With Hemolytic Uremic Syndrome

N Schwotzer, F Fakhouri, PV Martins, Y Delmas… - American Journal of …, 2024 - Elsevier
Atypical haemolytic uremic syndrome (aHUS) is a rare kidney disease due to a
dysregulation of the complement alternative pathway (AP). Complement factor I (CFI) …

[HTML][HTML] Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication

Y Tasaki, H Tsujimoto, T Yokoyama… - Frontiers in …, 2024 - frontiersin.org
Mutations in the complement factor H (CFH) gene are associated with complement
dysregulation and the development of atypical hemolytic uremic syndrome (aHUS). Several …

Diagnostic Challenges and Emerging Pathogeneses of Selected Glomerulopathies

NK Andeen, J Hou - Pediatric and Developmental Pathology, 2024 - journals.sagepub.com
Recent progress in glomerular immune complex and complement-mediated diseases have
refined diagnostic categories and informed mechanistic understanding of disease …

Adolescence-onset atypical hemolytic uremic syndrome: is it different from infant-onset?

K Celegen, B Gulhan, K Fidan, S Yuksel… - Clinical and …, 2024 - Springer
Background Atypical hemolytic uremic syndrome (aHUS) is a rare, mostly complement-
mediated thrombotic microangiopathy. The majority of patients are infants. In contrast to …

[HTML][HTML] Eculizumab for adult patients with atypical haemolytic-uraemic syndrome: full dataset analysis of Japanese post-marketing surveillance

S Maruyama, Y Ikeda, S Kaname, N Kato… - Journal of …, 2024 - Springer
Background Eculizumab has been approved for atypical haemolytic-uraemic syndrome
(aHUS) in Japan since 2013. Post-marketing surveillance enrolled patients with aHUS who …

[HTML][HTML] Efficacy and Safety of Eculizumab in Enteroaggregative E. coli Associated Hemolytic Uremic Syndrome

R Acharya, WL Clapp, K Upadhyay - Pediatric Reports, 2024 - mdpi.com
Background. Hemolytic uremic syndrome (HUS) may present atypically without the full triad
of classical HUS. Eculizumab has been shown to be efficacious in complement-mediated …

Thrombotic microangiopathy with kidney involvement in a patient with coronavirus disease 2019: A case report and literature review

D Feng, X Nie, L Tan, X Chen, W Chen, W Chen… - 2024 - researchsquare.com
Background and aim: Millions of people worldwide have suffered from coronavirus disease
2019 (COVID-19). COVID-19 can lead to coagulopathy and thrombosis, presenting as …

Atypical Hemolytic Uremic Syndrome Triggered by COVID-19 Infection in a Pediatric Patient with CD46 Mutation

PM Dana, P Lorestani, MR Tohidi - 2024 - researchsquare.com
Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy
(TMA) which is considered life-threatening and caused by dysregulation of the complement …

Update in Pediatric Nephrology

D Weidemann, M Bitzan - Update in Pediatrics, 2024 - Springer
Pediatric nephrology has rapidly evolved over the last several decades, with major
advances in the pathophysiology, genetics, diagnosis, and treatment of children with kidney …