Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H

Hannu Jalanko, Seija Peltonen, Aino Koskinen, Juha Puntila, Helena Isoniemi, Christer Holmberg, Anne Pinomäki, Elisa Armstrong, Antti Koivusalo, Eija Tukiainen, Heikki Mäkisalo, J Saland, Giuseppe Remuzzi, Santiago Rodriguez de Cordoba, Riitta Lassila, Seppo Meri, Sakari Jokiranta

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Sammanfattning

A 12-month-old boy and his 16-year-old aunt became acutely ill 6 months apart and were diagnosed to have atypical hemolytic uremic syndrome (aHUS). Genetic analysis revealed heterozygous R1215Q mutation in complement factor H (CFH) in both patients. The same mutation was found in five healthy adult relatives indicating incomplete penetrance of the disease. The patients developed terminal renal failure and experienced reversible neurological symptoms in spite of plasma exchange (PE) therapy. In both cases, liver-kidney transplantation was successfully performed 6 months after the onset of the disease. To minimize complement activation and prevent thrombotic microangiopathy or overt thrombotic events due to the malfunctioning CFH, extensive PE with fresh frozen plasma was performed pre- and perioperatively and anticoagulation was started a few hours after the operation. No circulatory complications appeared and all four grafts started to function immediately. Also, no recurrence or other major clinical setbacks have appeared during the postoperative follow-up (15 and 9 months) and the grafts show excellent function. While more experience is needed, it seems that liver-kidney transplantation combined with pre- and perioperative PE is a rational option in the management of patients with aHUS caused by CFH mutation.
Originalspråkengelska
TidskriftAmerican Journal of Transplantation
Volym8
Utgåva1
Sidor (från-till)216-221
Antal sidor6
ISSN1600-6135
DOI
StatusPublicerad - 2008
MoE-publikationstypA1 Tidskriftsartikel-refererad

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