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

Research output: Contribution to journalArticleScientificpeer-review

Abstract

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.
Original languageEnglish
JournalAmerican Journal of Transplantation
Volume8
Issue number1
Pages (from-to)216-221
Number of pages6
ISSN1600-6135
DOIs
Publication statusPublished - 2008
MoE publication typeA1 Journal article-refereed

Cite this

Jalanko, Hannu ; Peltonen, Seija ; Koskinen, Aino ; Puntila, Juha ; Isoniemi, Helena ; Holmberg, Christer ; Pinomäki, Anne ; Armstrong, Elisa ; Koivusalo, Antti ; Tukiainen, Eija ; Mäkisalo, Heikki ; Saland, J ; Remuzzi, Giuseppe ; de Cordoba, Santiago Rodriguez ; Lassila, Riitta ; Meri, Seppo ; Jokiranta, Sakari. / Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H. In: American Journal of Transplantation. 2008 ; Vol. 8, No. 1. pp. 216-221.
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title = "Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H",
abstract = "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.",
author = "Hannu Jalanko and Seija Peltonen and Aino Koskinen and Juha Puntila and Helena Isoniemi and Christer Holmberg and Anne Pinom{\"a}ki and Elisa Armstrong and Antti Koivusalo and Eija Tukiainen and Heikki M{\"a}kisalo and J Saland and Giuseppe Remuzzi and {de Cordoba}, {Santiago Rodriguez} and Riitta Lassila and Seppo Meri and Sakari Jokiranta",
year = "2008",
doi = "10.1111/j.1600-6143.2007.02029.x",
language = "English",
volume = "8",
pages = "216--221",
journal = "American Journal of Transplantation",
issn = "1600-6135",
publisher = "Wiley",
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}

Jalanko, H, Peltonen, S, Koskinen, A, Puntila, J, Isoniemi, H, Holmberg, C, Pinomäki, A, Armstrong, E, Koivusalo, A, Tukiainen, E, Mäkisalo, H, Saland, J, Remuzzi, G, de Cordoba, SR, Lassila, R, Meri, S & Jokiranta, S 2008, 'Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H' American Journal of Transplantation, vol. 8, no. 1, pp. 216-221. https://doi.org/10.1111/j.1600-6143.2007.02029.x

Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H. / Jalanko, Hannu; Peltonen, Seija; Koskinen, Aino; Puntila, Juha; Isoniemi, Helena; Holmberg, Christer; Pinomäki, Anne; Armstrong, Elisa; Koivusalo, Antti; Tukiainen, Eija; Mäkisalo, Heikki; Saland, J; Remuzzi, Giuseppe; de Cordoba, Santiago Rodriguez; Lassila, Riitta; Meri, Seppo; Jokiranta, Sakari.

In: American Journal of Transplantation, Vol. 8, No. 1, 2008, p. 216-221.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H

AU - Jalanko, Hannu

AU - Peltonen, Seija

AU - Koskinen, Aino

AU - Puntila, Juha

AU - Isoniemi, Helena

AU - Holmberg, Christer

AU - Pinomäki, Anne

AU - Armstrong, Elisa

AU - Koivusalo, Antti

AU - Tukiainen, Eija

AU - Mäkisalo, Heikki

AU - Saland, J

AU - Remuzzi, Giuseppe

AU - de Cordoba, Santiago Rodriguez

AU - Lassila, Riitta

AU - Meri, Seppo

AU - Jokiranta, Sakari

PY - 2008

Y1 - 2008

N2 - 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.

AB - 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.

U2 - 10.1111/j.1600-6143.2007.02029.x

DO - 10.1111/j.1600-6143.2007.02029.x

M3 - Article

VL - 8

SP - 216

EP - 221

JO - American Journal of Transplantation

JF - American Journal of Transplantation

SN - 1600-6135

IS - 1

ER -