Buradasınız

Anasayfa » Content

Membranoproliferatif Glomerülonefrit Tanılı Genç Kadın Hastada Üst Ekstremite Derin Ven Trombozu ve Homozigot MTHFR 1298A-C Mutasyonu Birlikteliği

The Association of Upper Extremity Deep Vein Thrombosis and Homozygosity for the MTHFR 1298A-C Mutation in a Young Women with Membranoproliferative Glomerulonephritis

Journal Name:

  • Türk Nefroloji, Diyaliz ve Transplantasyon Dergisi

Publication Year:

  • 2014
DOI: 
10.5262/tndt.2014.1002.12

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Nephrotic syndrome increases the tendency to thromboembolic complications in both adults and children. Changes in the plasma concentrations of many proteins concerned with regulation of clotting and fibrinolytic systems, hyperviscosity, dehydration, corticosteroid and diuretic therapy may also contribute to thromboembolism. In addition, some of the genetic disorders also increase tendency to thromboembolic events. One of these disorders is methylene tetrahydrofolate reductase (MTHFR) A1298C mutation, which may cause hyperhomocysteinemia and thrombotic events when the folate level is low. A 26-year-old female was admitted to hospital with upper extremity deep vein thrombosis and nephrotic range proteinuria. On her renal biopsy, membranoproliferative glomerulonephritis (MPGN) was found. The other causes of thrombosis were excluded and homozygosity for the MTHFR A1298C mutation was determined. The levels of homocysteine and folic acid were normal. We report a first case of MPGN together with homozygosity for MTHFR 1298C mutation in adult nephrotic syndrome, complicated with unusual upper extremity venous thrombosis.
Bookmark/Search this post with
Abstract (Original Language): 
Nefrotik sendrom erişkinlerde ve çocuklarda tromboembolik komplikasyonların artışına neden olmaktadır. Plazmadaki pıhtılaşma ve fibrinolitik sistemde görevli birçok protein konsantrasyonundaki değişikliklerin yanı sıra hiperviskozite, dehidratasyon, kortikosteroid ve diüretik tedavi gibi faktörler tromboembolik olaylara yol açmaktadır. Bunlara ek olarak bazı genetik bozukluklarda tromboembolik olaylara neden olabilmektedir. Bunlardan birisi de oldukça nadir görülen metilen tetrahidrofolat redüktaz (MTHFR) A1298C mutasyonudur. Bu mutasyonun varlığı folat düzeyi düşük olan bireylerde hiperhomosisteinemi ve trombotik olaylara neden olabilmektedir. 26 yaşında bayan hasta üst ekstremite derin ven trombozu ve nefrotik proteinüri ile hastanemize başvurmuştur. Yapılan renal biyopside membranoproliferatif glomerülonefrit (MPGN) saptanmıştır. Hastada tromboza neden olabilecek diğer faktörler dışlanmış ve MTHFR A1298C mutasyonunun eşlik ettiği tespit edilmiştir. Serum homosistein ve folik asit düzeyleri normal bulunmuştur. Üst ekstremite derin ven trombozu ile başvuran ve beraberinde MPGN ile homozigot MTHFR A1298C mutasyonu saptanan hastamız literatürde birlikteliği bildirilmemiş nadir bir olgu olması nedeniyle sunulmuştur.
FULL TEXT (PDF): 
PDF icon arastirmax-membranoproliferatif-glomerulonefrit-tanili-genc-kadin-hastada-ust-ekstremite-derin-ven-trombozu-homozigot-mthfr-1298a-c-mutasyonu-birlikteligi.pdf
  • 2
145
149
  • Turkish

REFERENCES

References: 

1. Singhal R, Brimble KS: Thromboembolic complications in the
nephrotic syndrome: Pathophysiology and clinical management.
Thromb Res 2006; 118(3): 397-407
2. Orth SR, Ritz E: The nephrotic syndrome. N Engl J Med 1998;
338(17): 1202-1211
3. Parag KB, Somers SR, Seedat YK, Byrne S, DaCruz CM, Kenoyer
G: Arterial thrombosis in nephrotic syndrome. Am J Kidney Dis
1990; 15(2): 176-177
4. Bellomo R, Atkins RC: Membranous nephropathy and
thromboembolism: Is prophylactic anticoagulation warranted?
Nephron 1993; 63(3): 249-254
5. Cameron JS: Coagulation and thromboembolic complications in the
nephrotic syndrome. Adv Nephrol Necker Hosp 1984; 13: 75-114
6. Price DT, Ridker PM: Factor V Leiden mutation and the risks for
thromboembolic disease: A clinical perspective. Ann Intern Med
1997; 127(10): 895-9037. Mahmoodi BK, ten Kate MK, Waanders F, Veeger NJ, Brouwer
JL, Vogt L, Navis G, van der Meer J: High absolute risks and
predictors of venous and arterial thromboembolic events in patients
with nephrotic syndrome: Results from a large retrospective cohort
study. Circulation 2008; 117(2): 224-230
8. Anderson FA Jr, Wheeler HB, Goldberg RJ, Hosmer DW,
Patwardhan NA, Jovanovic B, Forcier A, Dalen JE: A populationbased
perspective of the hospital incidence and case-fatality rates of
deep vein thrombosis and pulmonary embolism. Arch Intern Med
1991; 151(5): 933-938
9. Llach F, Papper S, Massry SG: The clinical spectrum of renal vein
thrombosis: Acute and chronic. Am J Med 1980; 69(6): 819-827
10. Chugh KS, Malik N, Uberoi HS, Gupta VK, Aggarwal ML, Singhal
PC, Suri S, Jain SK: Renal vein thrombosis in nephrotic syndrome-a
prospective study and review. Postgrad Med J 1981; 57(671):
566-570
11. Kher V, Gulati S: Mesangiocapillary glomerulonephritis. In:
Davidson AM (ed), Oxford Textbook of Clinical Nephrology. 3.
Oxford: Oxford University Press, 2005;523-545
12. Dickey W, Callender ME, Mayne EE: Upper limb venous thrombosis
complicating amyloidosis. Ir J Med Sci 1986; 155(12): 437-438
13. Goyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt DS,
Matthews RG, Rozen R: Human methylenetetrahydrofolate
reductase: Isolation of cDNA, mapping and mutation identification.
Nat Genet 1994; 7(2): 195-200
14. Girelli D, Friso S, Trabetti E, Olivieri O, Russo C, Pessotto R, Faccini
G, Pignatti PF, Mazzucco A, Corrocher R: Methylenetetrahydrofolate
reductase C677T mutation, plasma homocysteine, and folate in
subjects from northern Italy with or without angiographically
documented severe coronary atherosclerotic disease: Evidence
for an important genetic-environmental interaction. Blood 1998;
91(11): 4158-4163
15. Akar N, Akar E, Akçay R, Avcu F, Yalcin A, Cin S: Effect of
methylenetetrahydrofolate reductase 677 C-T, 1298 A-C, and 1317
T-C on factor V 1691 mutation in Turkish deep vein thrombosis
patients. Thromb Res 2000; 97(3): 163-167
16. Cronin S, Furie KL, Kelly PJ: Dose-related association of MTHFR
677T allele with risk of ischemic stroke: Evidence from a cumulative
meta-analysis. Stroke 2005; 36(7): 1581-1587
17. Kelly PJ, Rosand J, Kistler JP, Shih VE, Silveira S, Plomaritoglou
A, Furie KL: Homocysteine, MTHFR 677C→T polymorphism,
and risk of ischemic stroke: Results of a meta-analysis. Neurology
2002; 59(4): 529-536
18. Klerk M, Verhoef P, Clarke R, Blom HJ, Kok FJ, Schouten
EG; MTHFR Studies Collaboration Group: MTHFR 677C→T
polymorphism and risk of coronary heart disease: A meta-analysis.
JAMA 2002; 288(16): 2023-2031
19. Lewis SJ, Ebrahim S, Davey Smith G: Meta-analysis of MTHFR
677C->T polymorphism and coronary heart disease: Does totality
of evidence support causal role for homocysteine and preventive
potential of folate? BMJ 2005; 331(7524): 105320. Keijzer MB, Borm GF, Blom HJ, Bos GM, Rosendaal FR,
den Heijer M: No interaction between factor V Leiden and
hyperhomocysteinemia or MTHFR 677TT genotype in venous
thrombosis. Results of a meta-analysis of published studies and a
large case-only study. Thromb Haemost 2007; 97(1): 32-37
21. Buyukcelik M, Karakok M, Baspinar O, Balat A: Arterial thrombosis
associated with factor V Leiden and methylenetetrahydrofolate
reductase C&//T mutation in childhood membranous glomerulonephritis.
Pediatr Nephrol 2008; 23(3): 491-494

Thank you for copying data from http://www.arastirmax.com