The renal pathology of Chediak-Higashi disease: usefulness of the urinary sediment as a confirmatory diagnostic test.
The presence of large cytoplasmic inclusions, thought to be abnormal lysosomes, seems to be the cytological hallmark of Chediak-Higashi disease in both humans and animals. This cell anomaly, originally reported in the leukocytes, is also present in various tissue cells, including kidneys. In the patient described, the abnormal inclusions were identified in renal cells of the urinary sediment. Thus, urine could provide a convenient source of diagnostic material in patients with Chediak-Higashi disease. In addition, the ultrastructure of these inclusions is described for the first time in human renal tissue.
D002609:Chediak-Higashi Syndrome / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007223:Infant; D007668:Kidney / Q000648:ultrastructure*; D008297:Male; D014556:Urine / Q000166:cytology*