TY - JOUR
T1 - High risk of FSGS recurrence in kidney allograft recipients independent of heterozygous NPHS2 mutation
AU - Mazanowska, Oktawia
AU - Kamińska, Dorota
AU - Kościelska-Kasprzak, Katarzyna
AU - Drulis-Fajdasz, Dominika
AU - Krajewska, Magdalena
AU - Falkiewicz, Krzysztof
AU - Hałoń, Agnieszka
AU - Chudoba, Paweł
AU - Polak, Wojciech
AU - Patrzałek, Dariusz
AU - Wikiera-Magott, Irena
AU - Boratyńska, Maria
AU - Klinger, Marian
PY - 2008/3
Y1 - 2008/3
N2 - Background. A high recurrence rate of focal segmental glomerulosclerosis (FSGS) is one of the most frequent events after kidney transplantation, with a risk of graft loss in more than 50% of the affected patients, but patients with a homozygous podocin mutation (NPHS2) are at low risk of FSGS recurrence because of proper podocine structure in the allograft. The mechanism of recurrence is still obscure, and a multifactorial origin has been proposed. Objectives. The purpose of the study was to identify recipients at risk of recurrence of FSGS or FSGS de novo in terms of podocin gene mutations (NPHS2). Material and Methods. Twelve patients (4 females, 8 males, mean age at transplantation: 35.5 ± 10.4 years) were analyzed. Of these, 5 of the 9 recipients (55%) with pre-transplant FSGS had recurrence of proteinuria and 3 developed de novo FSGS. Delayed graft function was observed in 3 patients with proteinuria and primary non-function with immediate recurrence of heavy proteinuria and graftectomy in one patient. Acute rejection occurred in 5 of the 8 patients with recurrent FSGS and in only one of the 4 without proteinuria. After 1 year the mean serum creatinine concentration (1.6 mg/dl) in six patients with significant proteinuria (6.2 ± 1.9 g/d) was higher than in the 4 patients with no proteinuria (0.97 mg/dl). During the observation period, 4 patients lost graft function in an average of 51 months and one patient died. Results. Mutational analysis of NPHS2 (5'UTR, coding sequences and flanking region) was performed in 10 patients and revealed two heterozygous mutations in exon 5 (R229Q) with recurrence of FSGS during the first month after transplantation in the first and no recurrence in the other recipient. Conclusions. These observations confirm the high risk of FSGS recurrence after kidney transplantation (55.5%), which was not affected by the presence of a heterozygous NPHS2 mutation but is connected with worse graft function after one year.
AB - Background. A high recurrence rate of focal segmental glomerulosclerosis (FSGS) is one of the most frequent events after kidney transplantation, with a risk of graft loss in more than 50% of the affected patients, but patients with a homozygous podocin mutation (NPHS2) are at low risk of FSGS recurrence because of proper podocine structure in the allograft. The mechanism of recurrence is still obscure, and a multifactorial origin has been proposed. Objectives. The purpose of the study was to identify recipients at risk of recurrence of FSGS or FSGS de novo in terms of podocin gene mutations (NPHS2). Material and Methods. Twelve patients (4 females, 8 males, mean age at transplantation: 35.5 ± 10.4 years) were analyzed. Of these, 5 of the 9 recipients (55%) with pre-transplant FSGS had recurrence of proteinuria and 3 developed de novo FSGS. Delayed graft function was observed in 3 patients with proteinuria and primary non-function with immediate recurrence of heavy proteinuria and graftectomy in one patient. Acute rejection occurred in 5 of the 8 patients with recurrent FSGS and in only one of the 4 without proteinuria. After 1 year the mean serum creatinine concentration (1.6 mg/dl) in six patients with significant proteinuria (6.2 ± 1.9 g/d) was higher than in the 4 patients with no proteinuria (0.97 mg/dl). During the observation period, 4 patients lost graft function in an average of 51 months and one patient died. Results. Mutational analysis of NPHS2 (5'UTR, coding sequences and flanking region) was performed in 10 patients and revealed two heterozygous mutations in exon 5 (R229Q) with recurrence of FSGS during the first month after transplantation in the first and no recurrence in the other recipient. Conclusions. These observations confirm the high risk of FSGS recurrence after kidney transplantation (55.5%), which was not affected by the presence of a heterozygous NPHS2 mutation but is connected with worse graft function after one year.
UR - http://www.scopus.com/inward/record.url?scp=45949104438&partnerID=8YFLogxK
M3 - Article
AN - SCOPUS:45949104438
SN - 1230-025X
VL - 17
SP - 207
EP - 212
JO - Advances in Clinical and Experimental Medicine
JF - Advances in Clinical and Experimental Medicine
IS - 2
ER -