FEEDING PROBLEMS IN CYSTINOSIS

Nephropathic cystinosis, a rare autosomal recessive storage disease ch aracterized by intracellular storage of free cystine due to a defect i n lysosomal cystine transport, is the most common cause of Fanconi syn drome in childhood. Although manifestations of extrarenal organ involv ement during the course of the disease are diverse, the spectrum of ga strointestinal (GI) problems has not yet been examined. In responses t o a questionnaire from 70 (35%) of the 200 registered members of the C ystinosis Foundation, we found that GI symptoms are more common, more diverse, and occur at a younger age in patients with cystinosis than p reviously recognized. Ninety-three percent of interviewed subjects had GI symptoms at initial presentation, and the overall lifetime prevale nce of GI problems in this group was 100%. Thirty percent have receive d gastric/jejunal tube feedings, and 7% required continuous or intermi ttent total parenteral nutrition. Fifty percent have been formally tes ted for GI abnormalities, and among these 77% have documented function al abnormalities (reflux/dysmotility, pseudo-obstruction, swallowing d ysfunction). Early recognition and aggressive therapy of GI problems i n cystinotic patients may ameliorate or prevent the development of dis abling symptoms.