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

S. Túri, Jeno Kóbor, Attila Erdos, Tibor Bodrogi, István Virág, Jeno Ormos

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

A 14-year-old boy with persistent proteinuria (1.6-4.0 g/day), microscopic haematuria, moderate hypertension, macrothrombocytopenia (giant platelets, platelet number 30×109/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 collage, 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.

Original languageEnglish
Pages (from-to)38-43
Number of pages6
JournalPediatric Nephrology
Volume6
Issue number1
DOIs
Publication statusPublished - Jan 1992

Fingerprint

Hereditary Nephritis
Deafness
Blood Platelets
Siblings
Platelet Count
Fathers
Adenosine Diphosphate
Epinephrine
Kidney
Glomerular Basement Membrane
Urinalysis
Megakaryocytes
Nephritis
Sensorineural Hearing Loss
Hematuria
Platelet Aggregation
Proteinuria
Hearing Loss
Electron Microscopy
Collagen

Keywords

  • Alport's syndrome
  • Epstein's syndrome
  • Hearing loss
  • Hereditary nephritis
  • Macrothrombocytopenia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology

Cite this

Hereditary nephritis, platelet disorders and deafness - Epstein's syndrome. / Túri, S.; Kóbor, Jeno; Erdos, Attila; Bodrogi, Tibor; Virág, István; Ormos, Jeno.

In: Pediatric Nephrology, Vol. 6, No. 1, 01.1992, p. 38-43.

Research output: Contribution to journalArticle

Túri, S, Kóbor, J, Erdos, A, Bodrogi, T, Virág, I & Ormos, J 1992, 'Hereditary nephritis, platelet disorders and deafness - Epstein's syndrome', Pediatric Nephrology, vol. 6, no. 1, pp. 38-43. https://doi.org/10.1007/BF00856828
Túri, S. ; Kóbor, Jeno ; Erdos, Attila ; Bodrogi, Tibor ; Virág, István ; Ormos, Jeno. / Hereditary nephritis, platelet disorders and deafness - Epstein's syndrome. In: Pediatric Nephrology. 1992 ; Vol. 6, No. 1. pp. 38-43.
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