Hereditary nephritis, platelet disorders and deafness — Epstein's syndrome

Abstract

A 14-year-old boy with persistent proteinuria (1.6-4.0 g/day), microscopic haematuria, moderate hypertension, macrothrombocytopenia (giant platelets, platelet number 30 x 10(9)/l) and a familial sensorineural hearing loss (the father and the brother were also affected) was studied. Kidney biopsy revealed a diffuse mesangial proliferation, and a focal thickening of the glomerular basement membrane was seen on electron microscopy. A normal number of megakaryocytes was observed in bone marrow aspirates. The aggregation response of the platelets to collagen, epinephrine and adenosine diphosphate (ADP) was decreased. The platelet number was slightly diminished, platelets were of normal size in both parents and the brother, and showed a decreased aggregability in response to collagen, epinephrine and ADP in the brother and mother. No functional abnormality of the platelets was observed in the father. Urinalysis and kidney function were normal in the family members. This boy with nephritis, platelet disorders and hearing loss corresponds to Epstein's syndrome.

Aetiological investigations of hearing loss in childhood: a review

“…64 Blood disorders, and in particular platelet disorders can be a syndromic feature in some syndromes associated with hearing loss. 65,66 …”

Genetic Disorders of Glomerular Basement Membranes

“…In late-stage disease, changes are non-specific. Electron microscopic findings are also variable, with reports of normal GBM ultrastructure, focal GBM thinning and thickening with splitting [32,36,37,39,40,41,42], generally with foot process effacement. GBM changes have been deemed suggestive of Alport syndrome [31].…”

“…In early kidney disease, light microscopic findings may be limited to mesangial expansion [28,39,40]. In late-stage disease, changes are non-specific.…”

Epstein Syndrome Presenting as Renal Failure in Young Patients

“…In contrast, all affected males in X-linked Alport Syndrome inevitably progress to end stage kidney disease. [7][8][9] Data from genotype-phenotype correlation studies suggest that mutations in the head ATPase domain are frequently associated with nephropathy and hearing impairment, as in Epstein and Fetchner Syndrome, while mutations in the C-terminal coiled region or truncation of the tailpiece is preferentially associated with hematological abnormalities only, as in May-Hegglin anomaly and Sebastian Syndrome. [5,10] Thrombocytopenia in these patients usually does not respond to treatment with corticosteroid or splenectomy.…”