Your browser doesn't support javascript.
loading
Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.
Haarmann, A; Mayr, M; Kölker, S; Baumgartner, E R; Schnierda, J; Hopfer, H; Devuyst, O; Baumgartner, M R.
Afiliación
  • Haarmann A; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland; Institute of Physiology, University of Zurich, Zurich, Switzerland; Center for Integrative Human Physiology, University of Zurich, Switzerland; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland.
Mol Genet Metab ; 110(4): 472-6, 2013 Dec.
Article en En | MEDLINE | ID: mdl-24095221
Chronic renal failure is a well-known long-term complication of methylmalonic aciduria (MMA-uria), occurring even under apparently optimal metabolic management. The onset of renal dysfunction seems to be dependent on the type of defect and vitamin B12-responsiveness. We report on a patient with a vitamin B12-responsive cobalamin A type (cblA) MMA-uria caused by a homozygous stop mutation (p.R145X) in the cobalamin A gene (MMAA). She was diagnosed with chronic kidney disease (CKD) stage III at the age of 12 years. Following re-evaluation, the patient received vitamin B12 (hydroxocobalamin) treatment, resulting in a significant decrease in the concentration of methylmalonic acid (MMA) in urine and plasma. Until age 29 years glomerular filtration rate remained stable probably due to hydroxocobalamin treatment slowing down progression to end-stage renal failure. Kidney biopsies showed non-specific manifestations of chronic interstitial inflammation. The patient received a renal transplant at age 35 years. Under continuous treatment with hydroxocobalamin there is no evidence of kidney damage due to MMA-uria until the last follow-up 6 years after transplantation. This case report illustrates (i) a long-term follow-up of a patient with MMA-uria due to cblA deficiency, (ii) the involvement of the kidney as a target organ and (iii) the importance of early and adequate vitamin B12 substitution in responsive patients. Further investigation will be necessary to prove the protective effect of hydroxocobalamin in the kidney in vitamin B12-responsive patients.
Asunto(s)
Palabras clave

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Vitamina B 12 / Proteínas de Transporte de Membrana Mitocondrial / Errores Innatos del Metabolismo de los Aminoácidos / Fallo Renal Crónico Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2013 Tipo del documento: Article País de afiliación: Suiza

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Vitamina B 12 / Proteínas de Transporte de Membrana Mitocondrial / Errores Innatos del Metabolismo de los Aminoácidos / Fallo Renal Crónico Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2013 Tipo del documento: Article País de afiliación: Suiza
...