EARLY OCCURRENCE OF END-STAGE RENAL-DISEASE IN A PATIENT WITH INFANTILE NEPHROPATHIC CYSTINOSIS JOURNAL OF PEDIATRICS Schnaper, H. W., COTTEL, J., Merrill, S., Marcusson, E., Kissane, J. M., Shackelford, G. D., So, S. K., Nelson, R. D., Cole, B. R., Smith, M. L., Schneider, J. A. 1992; 120 (4): 575-578


We report the case of a patient with infantile nephropathic cystinosis who required renal transplantation at age 30 months. Exhaustive evaluation did not identify a cause of progressive renal failure other than cystinosis. The patient's genetic lesion was allelic with those of other patients with cystinosis; fusion of this patient's fibroblasts with fibroblasts from another patient with infantile nephropathic cystinosis did not demonstrate complementation of the biochemical defect.

View details for Web of Science ID A1992HN86100016

View details for PubMedID 1552398