Hereditary nephritis, deafness and abnormal thrombopoiesis. Study of a new kindred.
A fourth kindred displaying the triad of hereditary nephritis, deafness and thrombocytopenia with giant platelets is described. Renal involvement, a common cause of death amongst afflicted subjects, appears to have a better prognosis in the affected members of this family. Although the electron microscopic appearance of the megakaryocytes in the present case appears similar to that in previously reported cases, we suggest that the "giant" platelets may result from a degenerative process of megakaryocytes leading to nuclear regression and cytoplasmic fragmentation, rather than the usual blebbing process.
D000293:Adolescent; D000328:Adult; D001792:Blood Platelets / Q000473:pathology / Q000648:ultrastructure; D001856:Bone Marrow Examination; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D003638:Deafness / Q000235:genetics*; D005260:Female; D006333:Heart Failure / Q000150:complications; D006801:Humans; D008297:Male; D008875:Middle Aged; D009394:Nephritis, Hereditary / Q000097:blood / Q000150:complications*; D010375:Pedigree; D011379:Prognosis; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics*