Clinical outcome and long-term management of 17 patients with propionic acidaemia
| Autor: | F. Poggi, H. Ogier, Jean-Paul Bonnefont, P. Kamoun, Philippe Hubert, C. Charpentier, J. M. Saudubray, E. Depondt, P. Parvy, S.B. van der Meer, Marco Spada, J. Bardet, D. Rabier, D. Rapoport |
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| Rok vydání: | 1996 |
| Předmět: |
Adult
Male medicine.medical_specialty Pediatrics Adolescent Late onset Disease Carnitine Metronidazole medicine Diet Protein-Restricted Humans Child Amino Acid Metabolism Inborn Errors business.industry Infant Newborn Infant Retrospective cohort study Surgery Survival Rate El Niño Child Preschool Pediatrics Perinatology and Child Health Failure to thrive Female medicine.symptom Propionates business Complication Parenteral Nutrition Home medicine.drug Follow-Up Studies |
| Zdroj: | European journal of pediatrics. 155(3) |
| ISSN: | 0340-6199 |
| Popis: | A retrospective study was performed on the clinical outcome and long-term treatment of 17 patients with propionic acidaemia diagnosed during the last 20 years in our hospital. The study group consisted of 12 patients with early onset type of disease and 5 patients with late onset. Seven (41%) patients died, five with early onset and two with late onset. The deceased early onset patients had a median survival of 0.4 years while the deceased late onset patients died at the age of 2.8 and 4 years respectively. Median age of the living early onset patients was 5.2 (1-9.25) years, the late onset patients were 4, 7 and 23 years old. Patients were all treated with natural protein restriction and in most cases carnitine and metronidazole were added. The early onset patients were almost all treated with daily home tube feeding. The mean natural protein intake of early onset patients (6.3 +/- 1.5 g/day) was significantly lower than the natural protein intake of late onset patients (17.6 +/- 5.3 g/day). Supplemental protein intake was higher in early onset patients. The general neurological outcome of our study group was satisfactory with a better outcome for early onset patients. As to growth, many patients showed a failure to thrive, this was particularly for height. The strong protein restriction during the first years of life probably contributed to this.The prognosis for patients with propionic acidaemia appeared to be satisfactory in terms of survival and outcome characteristics such as neurological and mental development. Despite these results the authors feel that the prognosis and quality of life of these patients might be improved with liver transplantation or possibly somatic gene therapy in the future. |
| Databáze: | OpenAIRE |
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