title: Cerebral vascular complication and hyperhomocysteinemia in a cystinotic uremic child.
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 mumol/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 mumol/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.
authors: Department of Pediatric Nephrology, Hospital Sainte-Justine, Montreal, Quebec, Canada. Merouana@ere.UMontreal.CA
authors: A
authors: A
authors: Merouani
authors: J
authors: J
authors: Genest
authors: R
authors: R
authors: Rozen
authors: M
authors: M
authors: Lambert
authors: G A
authors: GA
authors: Mitchell
authors: J
authors: J
authors: Dubois
authors: P
authors: P
authors: Robitaille
mesh_terms: D000293:Adolescent; D002561:Cerebrovascular Disorders / Q000209:etiology*; D003554:Cystinosis / Q000097:blood / Q000150:complications*; D005260:Female; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D007676:Kidney Failure, Chronic / Q000378:metabolism
chemical_list: D006710:Homocysteine