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Title: Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy
Authors: Van Hove, Johan L K ×
Lombaerts, Rita
Grünewald, Stephanie
Peters, Heidi
Van Damme, Boudewijn
Fryns, Jean-Pierre
Arnout, Jozef
Wevers, Ron
Baumgartner, E Regula
Fowler, Brian #
Issue Date: Sep-2002
Series Title: American Journal of Medical Genetics vol:111 issue:2 pages:195-201
Abstract: Two siblings, a boy age 12 and his sister age 4 years, presented with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. At age 13 years, the boy developed an episode of severe hypertensive encephalopathy and transient renal failure. Both children are attending normal school, have no neurologic symptoms, and only minimal pigmentary retinal abnormalities. Renal biopsy showed a chronic thrombotic microangiopathic nephropathy. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Fibroblasts showed decreased cobalamin uptake, reduced methyl- and adenosyl-cobalamin formation, and deficient incorporation of formate and propionate, compatible with the Cbl-C complementation group, but milder than that found in cells from most patients. Both patients and their father carry a balanced reciprocal translocation. Parenteral hydroxycobalamin treatment reduced the homocysteine levels, and methylmalonic acid disappeared. Increasing the dosage of hydroxycobalamin from 1 to 2.5, then 5 mg daily together with betaine, further reduced homocysteine levels (boy from 118 to 23 microM and girl from 59 to 14 microM). With this treatment, hemolysis has stopped, hematuria has disappeared, proteinuria has almost normalized, and creatinine clearance has been stable. Investigations for chronic thrombotic microangiopathy should include testing for this unusual but treatable disorder, regardless of age of presentation.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Cell & Tissue Research
Clinical Genetics Section (-)
Molecular and Vascular Biology
Laboratory of Pediatric Immunology
Biomedical Sciences Group Management - miscellaneous
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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