Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in paediatric steroidresistant nephrotic syndrome

Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in paediatric steroidresistant nephrotic syndrome

Thromboembolic complications are a significant cause of morbidity and mortality in cases of nephrotic syndrome. Hereditary thrombophilias are also known to increase vascular thrombosis. We present a case that has been followed up for steroid-resistant nephrotic syndrome (NS) in which intracardiac an...

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Bibliographic Details
Main Authors: Rahime Renda, Ö Aydoğ, M Bülbül, E K Çakıcı
Format: Article
Language:English
Published: Health and Medical Publishing Group 2016-12-01
Series:South African Journal of Child Health
Subjects:
nephrotic syndrome
steroid-resistant
thrombosis
mutation
Online Access:http://www.sajch.org.za/index.php/SAJCH/article/view/1189/748
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spelling doaj-94dc880ff3744fc1b984c8a703ed53e12020-11-25T00:25:42ZengHealth and Medical Publishing GroupSouth African Journal of Child Health1994-30321999-76712016-12-01104233234Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in paediatric steroidresistant nephrotic syndromeRahime RendaÖ Aydoğ0M Bülbül1E K Çakıcı2Pediatric Nephrology Department, Dr Sami Ulus Maternity and Children’s Research and Education Hospital, Ankara, TurkeyPediatric Nephrology Department, Dr Sami Ulus Maternity and Children’s Research and Education Hospital, Ankara, TurkeyPediatric Nephrology Department, Dr Sami Ulus Maternity and Children’s Research and Education Hospital, Ankara, TurkeyThromboembolic complications are a significant cause of morbidity and mortality in cases of nephrotic syndrome. Hereditary thrombophilias are also known to increase vascular thrombosis. We present a case that has been followed up for steroid-resistant nephrotic syndrome (NS) in which intracardiac and intracranial thrombosis subsequently developed. The patient was found to have a homozygote mutation in the methylenetetrahydrofolate reductase (MTHFR) gene as an additional risk factor for recurrent thrombosis. MTHFR mutation with NS was considered to have an important effect on the development of life-threatening thrombosis. http://www.sajch.org.za/index.php/SAJCH/article/view/1189/748nephrotic syndromesteroid-resistantthrombosismutation
collection DOAJ
language English
format Article
sources DOAJ
author Rahime Renda
Ö Aydoğ
M Bülbül
E K Çakıcı
spellingShingle Rahime Renda
Ö Aydoğ
M Bülbül
E K Çakıcı
Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in paediatric steroidresistant nephrotic syndrome
South African Journal of Child Health
nephrotic syndrome
steroid-resistant
thrombosis
mutation
author_facet Rahime Renda
Ö Aydoğ
M Bülbül
E K Çakıcı
author_sort Rahime Renda
title Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in paediatric steroidresistant nephrotic syndrome
title_short Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in paediatric steroidresistant nephrotic syndrome
title_full Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in paediatric steroidresistant nephrotic syndrome
title_fullStr Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in paediatric steroidresistant nephrotic syndrome
title_full_unstemmed Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in paediatric steroidresistant nephrotic syndrome
title_sort intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase a1298c homozygote mutation in paediatric steroidresistant nephrotic syndrome
publisher Health and Medical Publishing Group
series South African Journal of Child Health
issn 1994-3032
1999-7671
publishDate 2016-12-01
description Thromboembolic complications are a significant cause of morbidity and mortality in cases of nephrotic syndrome. Hereditary thrombophilias are also known to increase vascular thrombosis. We present a case that has been followed up for steroid-resistant nephrotic syndrome (NS) in which intracardiac and intracranial thrombosis subsequently developed. The patient was found to have a homozygote mutation in the methylenetetrahydrofolate reductase (MTHFR) gene as an additional risk factor for recurrent thrombosis. MTHFR mutation with NS was considered to have an important effect on the development of life-threatening thrombosis.
topic nephrotic syndrome
steroid-resistant
thrombosis
mutation
url http://www.sajch.org.za/index.php/SAJCH/article/view/1189/748
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AT oaydog intracardiacandintracerebralthrombosisassociatedwithmethylenetetrahydrofolatereductasea1298chomozygotemutationinpaediatricsteroidresistantnephroticsyndrome
AT mbulbul intracardiacandintracerebralthrombosisassociatedwithmethylenetetrahydrofolatereductasea1298chomozygotemutationinpaediatricsteroidresistantnephroticsyndrome
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