| Autor: |
GAHL, WILLIAM A., BERNARDINI, ISA M., DALAKAS, MARINOS C., MARKELLO, THOMAS C., KRASNEWICH, DONNA M., CHARNAS, LAWRENCE R. |
| Zdroj: |
Pediatric Research (Ovid); August 1993, Vol. 34 Issue: 2 p115-119, 5p |
| Abstrakt: |
The renal tubular Fanconi syndrome of children with nephropathic cystinosis causes plasma and musle carnitine depletion. L-Carnitine replacement therapy for up to 18 mo has previously been shown to normalize plasma but not muscle carnitine levels. We treated six cystinosis patients, aged 1 to 4 y, with a mean dosage of 92 mg L-carnitine/kg/d given every 6 h for an average of 62 mo. Despite fractional excretions of free carnitine ranging from 55 to 108, plasma-free and total carnitine concentrations were maintained at or above normal levels. At the end of the carnitine replacement period, the six children had muscle-free carnitine values ranging from 16.0 to 28.0 nmol/mg noncollagen protein compared with values of 3.0 to 11.4 for cystinosis children not supplemented with carnitine [normal, 22.7 ± 5.0 (SD) nmol/mg protein). Total muscle carnitine values were also normalized by L-carnitine replacement. The monthly increase in total body creatinine production, a measure of muscle mass, was higher (p = 0.036) in children with normal plasma free carnitine concentrations (3.4 ± 0.9 mg/d) than in children with low plasma free carnitine (2.3 ± 0.7 mg/d). No serious side effects, such as severe diarrhea, were observed. We conclude that oral L-carnitine replacement can normalize muscle carnitine content in children with cystinosis. (Pediatr Res 34: 115–119,1993) |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
