Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Atypical hemolytic uremic syndrome (aHUS) is a rare and heterogenous disease caused by a disregulation of the alternative pathway of the complement cascade. Specifically, microvascular damage is produced that can lead to acute kidney disease, hemolytic anemia and thrombocytopenia. It accounts for 10% of all hemolytic uremic syndromes and can result in death or in end stage renal disease since the first episode. We can differentiate two forms of aHUS: a sporadic form (80%), affecting adult people, and a familial form (20%) that usually became manifest during infancy. In the acute phase of the disease, frequent and severe anemia requires multiple blood transfusions, exposing patients to the risk of catching an infective disease. HCV hepatitis is the most prevalent chronic hepatitis worldwide, with approximately 170 million chronically infected individuals - many of which are unaware of their condition. The evolution of the HCV infection is variable: almost 20% of patients spontaneously clear the infection over time (Anti HCV positive, HCV RNA negative patients); 80% of patients cannot control the virus and develop chronic infection (Anti HCV positive; HCV RNA positive patients) that can evolve into liver cirrhosis and hepatocellular carcinoma. The aim of this paper is to describe a clinical case of acute HCV hepatitis in a patient with aHUS treated with Eculizumab.
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PMID:[Acute HCV-induced hepatitis in a patient affected by atypical hemolytic uremic syndrome (aHUS) treated with Eculizumab - case report]. 3280 85

Paroxysmal nocturnal hemoglobinuria (PNH) is a type of hemolytic anemia acquired by the PIG-A gene mutation. This causes a deficiency of a complement regulatory protein, the CD59, which results in hemolysis, hemoglobinuria and thrombosis (due to the release of procoagulant factors). Budd-Chiari syndrome is characteristic in these patients and has classically been considered a contraindication for liver transplantation (LT) due to post-transplant recurrence. Since the approval of eculizumab for the treatment of PHN, disease control is possible and therefore the post-transplant recurrence of thrombotic phenomena involving the liver is avoided. Our patient is a 53-year-old man, with no relevant medical history, diagnosed in 1993 with hemolytic anemia (Coombs-, Ham-) and discharged with immunosuppressive and corticosteroid therapy, who was unable to suspend due to repeated hemolytic crisis. In 2004, abdominal ultrasound and abdominal CT were performed due to dyspeptic symptoms, showing stigmas of chronic liver disease, signs of portal hypertension and portal cavernomatosis secondary to Budd-Chiari syndrome. In 2006, the first clonality study was carried out, being conclusive with PHN. In January 2009, treatment with eculizumab was started and disease control was achieved without the need for corticosteroids. In 2018, he presented two episodes of hematemesis due to esophageal varices, so he was included on the waiting list for LT. Finally in February 2019 TH is carried out without complications. Eculizumab has changed the paradigm of this patient because it supposes a complete control of the hematological disease. In this way, liver cirrhosis secondary to PNH with secondary Budd-Chiari syndrome, goes from being a contraindication for LT to being one of the indications for it. There are few reported cases of transplantation in these patients, but they report good results as in this case(2-3).
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PMID:PAROXYSMAL NOCTURNAL HEMOGLOBINURIA AND LIVER TRANSPLANTATION, A NEW PARADIGM. 3322 66