03 May 2020 : Case report
Atypical Hemolytic Uremic Syndrome (p.Gly1110Ala) with Autoimmune Disease
Challenging differential diagnosis, Unusual setting of medical care, Rare disease
Sihyung Park1ADEF, Yoo Jin Lee1F, Yang Wook Kim1DF, Junghae Ko1F, Jin Han Park1F, Il Hwan Kim1F, Hee-Jin Kim2CD, Doyeun Oh3CD, Bong Soo Park1AD*DOI: 10.12659/AJCR.922567
Am J Case Rep 2020; 21:e922567
Abstract
BACKGROUND: Hemolytic uremic syndrome (HUS) can be categorized as primary (typical or atypical) or secondary (with a coexisting diseases). Typical HUS usually means shiga-toxin-medicated and thrombotic thrombocytopenic purpura. Secondary HUS is often initiated by coexisting diseases or conditions such as infections, transplantation, cancer, and autoimmune disease. Atypical HUS (aHUS) is usually induced by genetic mutations of one or several complement-regulating genes and associated with dysregulated complement activation. In the era of compliment-inhibiting therapy, early recognition of aHUS is important for patient prognosis. However, compliment-inhibiting therapy is not always beneficial in patients with secondary HUS.
CASE REPORT: We present a case of a 49-year-old woman with aHUS, which was caused by a novel genetic point mutation of complement factor H gene (p.Gly1110Ala) mimicking secondary HUS with scleroderma. Instead of administering eculizumab treatment for C5 polymorphism, the patient was successfully treated with mycophenolate mofetil.
CONCLUSIONS: HUS has complex and mixed etiologies and requires genetic testing. Attention should be paid to new point mutations in aHUS.
Keywords: Hemolytic-Uremic Syndrome, Mutation, Scleroderma, Diffuse, Atypical Hemolytic Uremic Syndrome, Complement Factor H, Mycophenolic Acid, Point Mutation, Scleroderma, Systemic
In Press
16 Mar 2024 : Case report
A Rare Autochthonous Case of Hepatic Hydatid Cyst in the Non-Endemic Region of TaiwanAm J Case Rep In Press; DOI: 10.12659/AJCR.943687
17 Mar 2024 : Case report
Contrast-Enhanced Ultrasonography in Diagnosing Intravascular Large B-Cell Lymphoma Infiltrating Liver Sinu...Am J Case Rep In Press; DOI: 10.12659/AJCR.943070
17 Mar 2024 : Case report
Rare Presentation of Rapidly Involuting Congenital Hemangioma of the Skull: A Case ReportAm J Case Rep In Press; DOI: 10.12659/AJCR.943370
18 Mar 2024 : Case report
Perineal Benign Symmetric Lipomatosis in a Female Patient: A Case ReportAm J Case Rep In Press; DOI: 10.12659/AJCR.943803
Most Viewed Current Articles
07 Mar 2024 : Case report
Neurocysticercosis Presenting as Migraine in the United StatesDOI :10.12659/AJCR.943133
Am J Case Rep 2024; 25:e943133
10 Jan 2022 : Case report
A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...DOI :10.12659/AJCR.935263
Am J Case Rep 2022; 23:e935263
19 Jul 2022 : Case report
Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19DOI :10.12659/AJCR.936128
Am J Case Rep 2022; 23:e936128
23 Feb 2022 : Case report
Penile Necrosis Associated with Local Intravenous Injection of CocaineDOI :10.12659/AJCR.935250
Am J Case Rep 2022; 23:e935250