Familial occurrence of the May-Hegglin anomaly: Is the accompanying renal failure part of a new subentity?

J. Demeter, G. Lelkes, L. Nemes, A. Kenéz, P. Turbucz, R. De Châtel

Research output: Contribution to journalArticle

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Abstract

We present two cases of the May-Hegglin anomaly discovered in a patient and one of her two sons. The female patient was known to have proteinuria from the age of 14 and was hospitalized in 1980, at the age of 25 years, because of hypertension and proteinuria (1.5 g/day). Thrombocytopenia was found with an abundance of megakaryocytes in the bone marrow. Both steroid treatment and splenectomy failed to ameliorate the thrombocytopenia, thought to be due to idiopathic thrombocytopenic purpura. Progressive renal failure, secondary hyperparathyroidism and uremic osteodystrophy were diagnosed in 1995. In January 1996, when she was hospitalized because of high-grade fever, we saw giant platelets and prominent blue inclusion bodies in almost all granulocytes in the peripheral blood smear. Electron microscopy confirmed the diagnosis of May-Hegglin anomaly in this patient and one of her sons, who at that time showed thrombocytopenia but no renal disease. Three years later, however, at the age of 15, the affected son was found to develop proteinuria. Coexpression of the May-Hegglin anomaly and renal disease, reported previously in a few other patients, may in fact represent a new subentity.

Original languageEnglish
Pages (from-to)368-371
Number of pages4
JournalAnnals of Hematology
Volume80
Issue number6
DOIs
Publication statusPublished - 2001

Fingerprint

Renal Insufficiency
Nuclear Family
Proteinuria
Thrombocytopenia
Kidney
Secondary Hyperparathyroidism
Idiopathic Thrombocytopenic Purpura
Megakaryocytes
Inclusion Bodies
Splenectomy
Granulocytes
Electron Microscopy
Fever
Blood Platelets
Bone Marrow
Steroids
Hypertension
MYH9-Related Disorders
Therapeutics

Keywords

  • Hereditary thrombocytopenia
  • May-Hegglin anomaly
  • Renal failure
  • Ultrastructural studies

ASJC Scopus subject areas

  • Hematology

Cite this

Familial occurrence of the May-Hegglin anomaly : Is the accompanying renal failure part of a new subentity? / Demeter, J.; Lelkes, G.; Nemes, L.; Kenéz, A.; Turbucz, P.; De Châtel, R.

In: Annals of Hematology, Vol. 80, No. 6, 2001, p. 368-371.

Research output: Contribution to journalArticle

Demeter, J. ; Lelkes, G. ; Nemes, L. ; Kenéz, A. ; Turbucz, P. ; De Châtel, R. / Familial occurrence of the May-Hegglin anomaly : Is the accompanying renal failure part of a new subentity?. In: Annals of Hematology. 2001 ; Vol. 80, No. 6. pp. 368-371.
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