GENETIC DIAGNOSIS OF CHRONIC KIDNEY DISEASE: A SINGLE-CENTER STUDY

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https://storage.unitedwebnetwork.com/files/1099/b6270d5503f1c556eb634cae65b6a203.pdf

Abstract Title

First Name *

EUGENIA

Last Name *

FLORES

Co-author 1

Mariana Ursino marianaursino8@gmail.com Hospital Británico de Buenos Aires Buenos Aires Buenos Aires

Co-author 2

Mariano Forrester marianoforrester@hotmail.com Hospital Británico de Buenos Aires Buenos Aires Buenos Aires

Co-author 3

Romina Iriarte romiriarte@gmail.com Hospital Británico de Buenos Aires Buenos Aires Buenos Aires

Co-author 4

Fernando Lombi fernandolombi@gmail.com Hospital Británico de Buenos Aires Buenos Aires Buenos Aires

Co-author 5

Matias Monkowski matias.mnk@gmail.com Hospital Británico de Buenos Aires Buenos Aires Buenos Aires

Co-author 6

Jose Diaz jhdgongora@gmail.com Hospital Británico de Buenos Aires Buenos Aires Buenos Aires

Co-author 7

Liliana Borda lilianaborda@gmail.com Hospital Británico de Buenos Aires Buenos Aires Buenos Aires

Co-author 8

Hernán Trimarchi htrimarchi@hotmail.com Hospital Británico de Buenos Aires Buenos Aires Buenos Aires

Co-author 9

Co-author 10

Co-author 11

Co-author 12

Co-author 13

Co-author 14

Co-author 15

Introduction

Chronic kidney disease (CKD) has an estimated global prevalence of 10%, 20% of which are attributed to genetic causes. Late diagnosis hampers the implementation of preventive nephroprotective regimens, leading to increased morbidity and mortality in this population

Methods

We retrospectively analyzed those CKD cases in which genetic mutation were performed

Results

Abbreviations: M, male; F, female; FSGS, focal and segmental glomerulosclerosis; TMA, thrombotic microangiopathy; ADTKD, Adult dominant tubulointerstitial kidney disease; MPGN, membrano-proliferative; glomerulonephritis; IGAN, IgA nephropathy; SLE, systemic lupus erythematosus

Conclusions

Genetic causes of CKD are a delayed diagnosis made in adulthood (median age: 32 years, r:10-64), being 65% (n=15) of female gender. Main clinical causes was nephrotic syndrome 26% (n= 6) and main histologic findings: FSGF 34,7% (N=8)

A precise diagnosis of CKD etiologies may decrease the employment of unnecessary immunosuppression regimes, mainly in those with proteinuria, and discard the chance of recurrence after kidney transplantation. The FSGS pattern encountered in kidney biopsies should alert nephrologists to pursue a genetic etiology when no overt causes are encountered.

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