ISSN:
1432-198X
Schlagwort(e):
Key words Uremia
;
Homocysteine
;
Cerebrovascular disease
;
Thermolabile methylenetetrahydrofolate reductase variant
;
Cystinosis
;
Folic acid
;
Vitamin B12
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract We report a 13-year-old girl with nephropathic cystinosis on chronic peritoneal dialysis who presented with two episodes of stroke. Laboratory evaluation showed severe hyperhomocysteinemia (108 µmol/l). Further testing revealed that she was homozygous for the thermolabile variant of the methylenetetrahydrofolate reductase (MTHFR) gene. Treatment with folic acid and vitamin B12 lowered plasma homocysteine to less than 20 µmol/l. No further episodes of stroke occurred over a follow-up of 12 months. Homocysteine levels should be measured in patients with chronic renal failure, since simple and safe treatment with folic acid and vitamin B12 is effective in lowering the plasma homocysteine level in patients with the thermolabile MTHFR allele.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/s004670050567
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