The Importance of BMP4 Gene Defects in Renal Transplant Patients with CAKUT
1Pediatric Nephrology, Baskent University, Ankara, Turkey, 2Genetics, Baskent University, Ankara, Turkey, 3Radiology, Baskent University, Ankara, Turkey, 4Transplantation, Baskent University, Ankara, Turkey
Meeting: 2019 American Transplant Congress
Abstract number: C248
Session Information
Session Name: Poster Session C: Kidney: Pediatrics
Session Type: Poster Session
Date: Monday, June 3, 2019
Session Time: 6:00pm-7:00pm
Presentation Time: 6:00pm-7:00pm
Location: Hall C & D
*Purpose: Congenital anomalies of the kidney and urinary tract (CAKUT) represent the major causes of chronıc renal failure in children. Urinary tract formation is a complex process, dependent of the interaction of multiple genes and their sub-product. Bone morphogenic protein 4 (BMP4) is one of the key regulators in early kidney development and mutations of this gene are associated with hereditary renal developmental diseases. We aimed to evaluate the association between the CAKUT phenotypes and the BMP4 genes in pediatric renal transplant patients.
*Methods: In this study 96 patients with CAKUT were evaluated for mutation screening of BMP4 gene. Eighteen of the patients were renal transplant recipients (F/M:8/8) and 78 of them(F/M:41/37) were non transplanted patients. The association between BMP4 gene and CAKUT phenotypes were investigated. We sequenced all exons and exon-intron boundaries of the BMP4 gene in all patients.
*Results: The mean age of patients in the transplant group was significantly higher than the non-transplant group (13.8±4.8 vs 6.9±3.63 years, p<.05). Four different heterozygous nucleotide variations were identified in BMP4 gene in 8 of 18 transplant patients. Five of these patients had renal hypodysplasia and 3 had VUR. None of these variations were present in 96 normal controls. Etiology of chronic renal failure were hypodysplasia in 62.5% and VUR in 37.5% of BMP4 gene variation identified patients. Ten renal transplant patients had no BMP4 gene and only one of these patients (10%) had renal hypodysplasia.
*Conclusions: In pediatric renal transplant patients with CAKUT, BMP4 gene variations are common and this defect is especially related to hypodysplasia for most of the patients. Further functional studies are required to make the associations clearer.
To cite this abstract in AMA style:
Baskin E, Sahin V, Terzi Y, Gulleroglu K, Uslu N, Akdur A, Moray G, Sahin F, Haberal M. The Importance of BMP4 Gene Defects in Renal Transplant Patients with CAKUT [abstract]. Am J Transplant. 2019; 19 (suppl 3). https://atcmeetingabstracts.com/abstract/the-importance-of-bmp4-gene-defects-in-renal-transplant-patients-with-cakut/. Accessed May 11, 2025.« Back to 2019 American Transplant Congress