International Registry of Recurrent and Familial Hemolytic Uremic Syndrome (HUS) and Thrombotic Thrombocytopenic Purpura (TTP)
Coordinator of the Registry: prof. Giuseppe Remuzzi
Clinical Research Center for Rare Diseases "Aldo e Cele Daccò", Ranica, Bergamo,
Hemolytic Uremic Syndrome (HUS) and Thrombotic Thrombocytopenic Purpura (TTP) are rare diseases characterized by microangiopathic hemolytic anemia and thrombocytopenia with signs of renal (most prevalent in HUS) and cerebral (most prevalent in TTP) damage.
In its typical presentation, HUS manifests as an acute disease with watery or bloody diarrhea, most commonly triggered by gastrointestinal infection with Shigatoxin producing Escherichia Coli (Stx-HUS). Acute renal failure manifests in most of these cases, but renal function recovers in up to 70%.
Atypical HUS (not caused by Shigatoxin producing E. coli) is rarer, accounting for only 5-10% of all cases of the disease, and may have a genetic origin. Atypical HUS may relapse after recovery of the first episode (recurrent form) and, in very rare cases, may occur in families (familial form). Atypical HUS has also a very poor outcome. Up to 50% of cases - most of them are children or young adults - progress to end-stage renal disease (ESRD) needing renal replacement therapy, but in these patients renal transplantation outcome has a poor prognosis with more than 50% of grafts lost for disease recurrence.
TTP is a life-threatening disease characterized by neurologic disturbances; most patients are young woman. The disease may manifest once in the lifetime or may relapse after complete recovery of the initial episode; in this recurrent form death and neurologic sequelae may be common final outcomes. There are also extremely rare forms of TTP with a genetic origin, occurring in families (familial form).
In 1996 an International Registry of Recurrent and Familial HUS/TTP has been established, under the coordination of the Clinical Research Center for Rare Diseases Aldo e Cele Daccò.
Till now 730 cases of HUS/TTP have been referred to the Registry from around 100 Italian and 80 European and extra-European Centers.
Clinical data of all patients referred to the Registry are collected by a form .
Look at the informative overview on ‘Genetic and Biochemical Testing in HUS/TTP’ by Dr. M. Noris and Prof. G. Remuzzi
AIMS OF THE REGISTRY:
- studying the genetic and biochemical abnormalities of HUS/TTP
- collecting clinical and genetic data of patients and their families
- finding the best therapeutic approach for patients
- giving up-to-date information to physicians and families
For further information about HUS/TTP and the activity of the Registry click here
HOW TO CONTACT US:
Clinical Research Center for Rare Diseases Aldo e Cele Daccò
Mario Negri Institute for Pharmacological Research
Via G.B. Camozzi, 3 - 24020 Ranica (BG)
phone 0039 35 4535304; Fax 0039 35 4535373
Elena Bresin, MD
Erica Daina, MD
Sara Gamba, RN