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cystinosis/diare
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A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis.
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We present a 9-month old boy with cystinosis admitted to our hospital with the complaints of vomiting, diarrhea and seizure. While he was hospitalized in a pediatric intensive care unit due to worsening of his signs related to cystinosis, within hours, he suffered complications of septic shock,
Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis.
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The renal tubular Fanconi syndrome of children with nephropathic cystinosis causes plasma and muscle 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,
Gastrointestinal manifestations of nephropathic cystinosis in children.
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BACKGROUND
Cystinosis is an autosomal recessive disorder which is characterized by both renal and extrarenal symptoms. Gastrointestinal dysfunction has been reported in adolescent with cystinosis, and it is rarely considered in the infants. The present case series reviewed gastrointestinal
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