Literature DB >> 1020755

Hereditary nephritis, deafness and abnormal thrombopoiesis. Study of a new kindred.

K P Parsa, D B Lee, L Zamboni, R J Glassock.   

Abstract

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.

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Year:  1976        PMID: 1020755     DOI: 10.1016/0002-9343(76)90501-5

Source DB:  PubMed          Journal:  Am J Med        ISSN: 0002-9343            Impact factor:   4.965


  3 in total

1.  Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13.

Authors:  A Toren; N Amariglio; G Rozenfeld-Granot; A J Simon; F Brok-Simoni; E Pras; G Rechavi
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

Review 2.  Epstein's syndrome: case report and survey of the literature.

Authors:  G R Standen; J Saunders; J Michael; A L Bloom
Journal:  Postgrad Med J       Date:  1987-07       Impact factor: 2.401

3.  Hereditary nephritis, platelet disorders and deafness-Epstein's syndrome.

Authors:  S Túri; J Kóbor; A Erdös; T Bodrogi; I Virág; J Ormos
Journal:  Pediatr Nephrol       Date:  1992-01       Impact factor: 3.714

  3 in total

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