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J Clin Pathol 58:939-945 doi:10.1136/jcp.2005.027177
  • Original article

High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation

Table 1

 Laboratory and clinical features of the patients

Patient Age/Sex Bleeding symptoms Associated disorders Platelet (×109/l) Bleeding time Ristocetin ADP (2μM) ADP (10µM) Collagen (2µM) Epinephrine (10 µM) ATP release (2 µM ADP) ATP release (10 µM ADP)
CRF, chronic renal failure; EPO, erythropoietin (chronic anaemia); m, months; N, normal; ND, not done; y, years.
1 7y/M Present CRF, EPO responsive anaemia, hepatomegaly 236 19 min N Reduced primary aggregation Minimal improvement Reduced primary aggregation Reduced primary aggregation Absent Minimal
2 1y 6m/M Absent None 406 9 min N Absent secondary aggregation N N N ND* ND*
3 1 y/F Absent None 217 25 min N Absent secondary aggregation Minimal improvement N Reduced secondary aggregation Absent Minimal
4 3y 6m/M Absent None 510 9 min 30 s N N N N N N N
5 2y 6m/M Absent None 232 15 min 7 s N Absent secondary aggregation Minimal improvement N Absent secondary aggregation ND ND
6 9y 8m/M Present CRF 257 21 min N Absent secondary aggregation ND N ND* ND* ND*
7 5y 9m/M Absent None 300 4 min 30 s N N N N ND* ND* ND*

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