Macrothrombopenia, nephritis és halláscsökkenés--egy új Epstein-syndromás eset.

Translated title of the contribution: Macrothrombopenia, nephritis and hearing loss--a new case of Epstein syndrome

J. Kóbor, S. Túri, A. Erdös, T. Bodrogi, I. Virág

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

A 14 years old boy with persistent proteinuria (1.6-4.0 g/day), microscopic haematuria, macrothrombocytopenia (giant platelets, platelet number 30 G/l), and a familial sensorineural hearing loss (the father and the brother were also affected) was studied. Kidney biopsy presented a diffuse mesangial proliferation, and a focal thickening of the glomerular basement membrane was seen on electron microscopy. With bone marrow aspiration normal number of megacaryocytes was observed. The aggregation response of the platelets was decreased on collagen, epinephrine and ADP but it was normal on aggristin. The presented case with nephritis, platelet disorders and hearing loss corresponds to Epstein syndrome, a variant of Alport's syndrome.

Original languageHungarian
Pages (from-to)1875-1877
Number of pages3
JournalOrvosi Hetilap
Volume132
Issue number34
Publication statusPublished - Aug 25 1991

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Nephritis
Hearing Loss
Blood Platelets
Hereditary Nephritis
Glomerular Basement Membrane
Sensorineural Hearing Loss
Hematuria
Platelet Count
Platelet Aggregation
Proteinuria
Fathers
Adenosine Diphosphate
Epinephrine
Siblings
Electron Microscopy
Collagen
Bone Marrow
Kidney
Biopsy
MYH9-Related Disorders

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Kóbor, J., Túri, S., Erdös, A., Bodrogi, T., & Virág, I. (1991). Macrothrombopenia, nephritis és halláscsökkenés--egy új Epstein-syndromás eset. Orvosi Hetilap, 132(34), 1875-1877.

Macrothrombopenia, nephritis és halláscsökkenés--egy új Epstein-syndromás eset. / Kóbor, J.; Túri, S.; Erdös, A.; Bodrogi, T.; Virág, I.

In: Orvosi Hetilap, Vol. 132, No. 34, 25.08.1991, p. 1875-1877.

Research output: Contribution to journalArticle

Kóbor, J, Túri, S, Erdös, A, Bodrogi, T & Virág, I 1991, 'Macrothrombopenia, nephritis és halláscsökkenés--egy új Epstein-syndromás eset.', Orvosi Hetilap, vol. 132, no. 34, pp. 1875-1877.
Kóbor J, Túri S, Erdös A, Bodrogi T, Virág I. Macrothrombopenia, nephritis és halláscsökkenés--egy új Epstein-syndromás eset. Orvosi Hetilap. 1991 Aug 25;132(34):1875-1877.
Kóbor, J. ; Túri, S. ; Erdös, A. ; Bodrogi, T. ; Virág, I. / Macrothrombopenia, nephritis és halláscsökkenés--egy új Epstein-syndromás eset. In: Orvosi Hetilap. 1991 ; Vol. 132, No. 34. pp. 1875-1877.
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