Case Reports

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

Rahime Renda, Ö Aydoğ, M Bülbül, E K Çakıcı

Abstract


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.


Authors' affiliations

Rahime Renda,

Ö Aydoğ, Pediatric Nephrology Department, Dr Sami Ulus Maternity and Children’s Research and Education Hospital, Ankara, Turkey

M Bülbül, Pediatric Nephrology Department, Dr Sami Ulus Maternity and Children’s Research and Education Hospital, Ankara, Turkey

E K Çakıcı, Pediatric Nephrology Department, Dr Sami Ulus Maternity and Children’s Research and Education Hospital, Ankara, Turkey

Full Text

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Keywords

nephrotic syndrome;steroid-resistant;thrombosis;mutation

Cite this article

South African Journal of Child Health 2016;10(4):233. DOI:10.7196/SAJCH.2016.v10i4.1189

Article History

Date submitted: 2016-05-30
Date published: 2016-12-14

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