Document Detail

Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy.
MedLine Citation:
PMID:  24961278     Owner:  NLM     Status:  Publisher    
BACKGROUND: Patients with a rare genetic disease may receive renal transplantation (KTx) without a correct diagnosis of causal nephropathy and therefore develop unexpected and even severe complications. Aim of the study was to describe the cases of rare genetic disorders diagnosed after KTx, in order to draw clinical lessons for the transplant physician.
METHODS: We retrospectively assessed all patients who had received a diagnosis of a rare genetic disorder after KTx.
RESULTS: In our Center, more than 30% (278/911) of KTx recipients were diagnosed with a causal nephropathy: prevalence of rare genetic disorders in this group was 4.32% (12/278), including 2,8 dihydroxyadeninuria (2,8 DHA)-disease (n=2), HNF-1B associated nephropathy (n=2), UMOD-related nephropathy (n=5), Fabry disease (n=1), INF2 focal segmental glomerulosclerosis (n=1) and Senior-Loken syndrome (n=1). 2,8 DHA-nephropathy relapsed in both patients causing an acute renal failure and jeopardising the graft.
CONCLUSIONS: KTx recipients without a diagnosis of causal nephropathy appear to be a selected population in which rare genetic diseases might be more common than expected. As even a belated diagnosis after KTx can have a significant impact on graft and patient survival and on other family members, this possibility should be evaluated in KTx recipients without a known causal nephropathy. This article is protected by copyright. All rights reserved.
Marco Quaglia; Claudio Musetti; Gian Marco Ghiggeri; Giovanni Battista Fogazzi; Fabio Settanni; Renzo Luciano Boldorini; Elisa Lazzarich; Andrea Airoldi; Cristina Izzo; Mara Giordano; Piero Stratta
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-6-24
Journal Detail:
Title:  Clinical transplantation     Volume:  -     ISSN:  1399-0012     ISO Abbreviation:  Clin Transplant     Publication Date:  2014 Jun 
Date Detail:
Created Date:  2014-6-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8710240     Medline TA:  Clin Transplant     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
This article is protected by copyright. All rights reserved.
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