MEditerranean FeVer ( MEFV ) gene mutations in glomerulonephritides: a  clinicopathological study

Ufuk İLGEN; Gökhan NERGİZOĞLU

Makale detayları

MEditerranean FeVer ( MEFV ) gene mutations in glomerulonephritides: a clinicopathological study

Yazarlar:

Ufuk İLGEN | Gökhan NERGİZOĞLU

Yayıncı:

TUBITAK

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Turkish Journal of Medical Sciences 2018 Vol.48 Issue 6, pp.1182-1191

Belge Tipi:

Makale

Yayın Tarihi:

12/2018

Belge Dili:

İngilizce

Document ID (Org No.):

2000750461

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Özet:

 


 
                         Background/aim:
 The aim of this study is to determine the 
ME
diterranean 
F
e
V
er (
MEFV
) gene mutation carrier rate in patients with 
glomerulonephritis and to investigate the association between disease features and MEFV variants.
Materials and methods:
 Medical records regarding clinical, laboratory, histopathological, and prognostic features of 200 adult patients 
with biopsy-proven glomerulonephritis were evaluated retrospectively. Exons 2 and 10 of the 
MEFV
 gene of each patient were sequenced 
by next-generation sequencing. Variants were detected and compared with disease features.
Results: 
MEFV
  mutation  carrier  rate  was  25%,  similar  among  disease  subgroups,  and  higher  than  the  previously  reported  rates  for  
normal populations. Demographic, clinical, and laboratory features at diagnosis did not differ in patients with and without mutations. 
Refractory disease rates were 73% and 40% in carriers and noncarriers of E148Q (P = 0.051).
Percentage of global sclerotic glomeruli 
was  higher  in  M694V  carriers  than  noncarriers  (medians  24%  vs.  0%,  P  =  0.047).  Tubulointerstitial  fibrosis  was  also  more  severe  in  
M694V carriers. The carrier rate of M694V was 14.3% in patients eventually needing chronic renal replacement therapy (RRT) (n = 21), 
whereas it was 2.8% in the group without RRT (OR = 5.8 [1.28-26.3], P = 0.040).
Conclusion:
MEFV
  mutation  carrier  rate  was  higher  than  expected  in  our  sample  of  Turkish  patients  with  glomerulonephritis.  The  
E148Q mutation may be associated with refractory disease. The M694V mutation was more frequent in patients who needed chronic 
R RT.
                    

.

Makale detayları

MEditerranean FeVer ( MEFV ) gene mutations in glomerulonephritides: a clinicopathological study

Yazarlar: Ufuk İLGEN | Gökhan NERGİZOĞLU

Yayıncı: TUBITAK

Ana Başlıklar: Sağlık teşvikleri

Dergi: Turkish Journal of Medical Sciences 2018 Vol.48 Issue 6, pp.1182-1191

Belge Tipi: Makale

Yayın Tarihi: 12/2018

Belge Dili: İngilizce

Document ID (Org No.): 2000750461

Sıklık: İki Aylık

eISSN: 1303-6165

pISSN: 1300-0144

Sayı

Yazarlar:

Ufuk İLGEN | Gökhan NERGİZOĞLU

Yayıncı:

TUBITAK

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Turkish Journal of Medical Sciences 2018 Vol.48 Issue 6, pp.1182-1191

Belge Tipi:

Makale

Yayın Tarihi:

12/2018

Belge Dili:

İngilizce

Document ID (Org No.):

2000750461

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144