Combined kidney and liver transplantation for familial haemolytic uraemic syndrome

Remuzzi, Giuseppe; Ruggenenti, Piero; Codazzi, Daniela; Noris, Marina; Caprioli, Jessica; Locatelli, Giuseppe; Gridelli, Bruno

doi:10.1016/s0140-6736(02)08560-4

Cited by 148 publications

(114 citation statements)

References 3 publications

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“…Because CFH, CFI, and C3 are plasma proteins synthesized predominantly by the liver, kidney transplantation alone does not correct the defect. As reported previously, simultaneous liver-kidney transplantation prevented recurrences in patients with CFH mutations but had a high mortality rate (23,24,39,40).…”

Section: Discussionsupporting

confidence: 59%

“…Simultaneous kidney and liver transplant was performed in four children with CFH mutations and in a child with combined CFH/CFI mutations. Three patients with CFH mutations died: two within a few days because of severe thrombotic liver complications (22,23) and one after 4 years because of hepatic encephalopathy (24). The other two patients have preserved liver and kidney function 1 year after transplantation.…”

Section: Clinical Findingsmentioning

confidence: 99%

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Relative Role of Genetic Complement Abnormalities in Sporadic and Familial aHUS and Their Impact on Clinical Phenotype

Noris¹,

Caprioli²,

Bresin³

et al. 2010

Clinical Journal of the American Society of Nephrology

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931

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Background and objectives: Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Most childhood cases are caused by Shiga toxin-producing bacteria. The other form, atypical HUS (aHUS), accounts for 10% of cases and has a poor prognosis. Genetic complement abnormalities have been found in aHUS.Design, setting, participants, and measurements: We screened 273 consecutive patients with aHUS for complement abnormalities and studied their role in predicting clinical phenotype and response to treatment. We compared mutation frequencies and localization and clinical outcome in familial (82) and sporadic (191) cases.Results: In >70% of sporadic and familial cases, gene mutations, disease-associated factor H (CFH) polymorphisms, or anti-CFH autoantibodies were found. Either mutations or CFH polymorphisms were also found in the majority of patients with secondary aHUS, suggesting a genetic predisposition. Familial cases showed a higher prevalence of mutations in SCR20 of CFH and more severe disease than sporadic cases. Patients with CFH or THBD (thrombomodulin) mutations had the earliest onset and highest mortality. Membrane-cofactor protein (MCP) mutations were associated with the best prognosis. Plasma therapy induced remission in 55 to 80% of episodes in patients with CFH, C3, or THBD mutations or autoantibodies, whereas patients with CFI (factor I) mutations were poor responders. aHUS recurred frequently after kidney transplantation except for patients with MCP mutations.Conclusions: Results underline the need of genetic screening for all susceptibility factors as part of clinical management of aHUS and for identification of patients who could safely benefit from kidney transplant.

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Section: Discussionsupporting

confidence: 59%

Section: Clinical Findingsmentioning

confidence: 99%

Relative Role of Genetic Complement Abnormalities in Sporadic and Familial aHUS and Their Impact on Clinical Phenotype

Noris¹,

Caprioli²,

Bresin³

et al. 2010

Clinical Journal of the American Society of Nephrology

Self Cite

931

1,194

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show abstract

“…In the first published case (157), a humoral rejection of the liver graft manifested by the 26th day after transplantation; the patient had actually a high titer of antibodies to donor class I HLA. In a few days, the child developed hepatic encephalopathy and coma that recovered with a second, uneventful liver transplant (157). The second case was complicated by a fatal, primary nonfunction of the liver graft.…”

Section: Which Treatment For Non-stx-hus?mentioning

confidence: 99%

“…Simultaneous kidney and liver transplant was performed in two young children with non-Stx-HUS and HF1 mutations, with the objective of correcting the genetic defect and preventing disease recurrences (157,158). However, for reasons that are currently under evaluation and that possibly involve an increased liver susceptibility to immune or ischemic injury related to uncontrolled complement activation, both cases that were treated with this procedure were complicated by premature irreversible liver failure.…”

Section: Which Treatment For Non-stx-hus?mentioning

confidence: 99%

Hemolytic Uremic Syndrome

Noris¹,

Remuzzi²

2005

Journal of the American Society of Nephrology

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502

428

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“…Our only patient with this syndrome had a factor B deficiency that was provided by the liver graft at the time of transplantation (since Eculizumab was not available by that time); after monitoring it, complement became normal. Outcome after CLKT is variable [7,8], but in our short experience, patient showed normal values of GFR and cystatin levels after 3 years of follow-up.…”

Section: Discussionmentioning

confidence: 64%