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Nephrol Dial Transplant (2001) 16: 1101-1103
© 2001 European Renal Association-European Dialysis and Transplant Association

Editorial Comment

Hereditary nephritis with macrothrombocytopenia: no longer an Alport syndrome variant

Bertrand Knebelmann, Fadi Fakhouri and Jean-Pierre Grünfeld

Service de Néphrologie and INSERM U 507, Hôpital Necker, Paris, France

The nephrologist's story

In 1972, two families were described with thrombocytopenia, giant platelets (macrothrombocytopenia), nephritis (N) and high frequency sensorineural hearing defect (D), inherited in an autosomal-dominant mode (Epstein syndrome) [1]. Later, cataracts and leukocyte inclusions were found to be associated with the preceding abnormalities, and the term ‘Fechtner syndrome’ was coined [2]. Additional families were subsequently reported, leading to a total of approximately 30 families (including four unpublished personal kindreds).

The haematologist's story

However, haematologists were aware of two other autosomal dominant disorders with macrothrombocytopenia and leukocyte inclusions, the May-Hegglin (MH) anomaly and the Sebastian platelet syndrome, distinguished by . . . [Full Text of this Article]

Reunification under the same gene

Non-muscle myosins

What to conclude and what remains to be elucidated?

No longer an Alport variant
How does MYH9 defect lead to renal disease?
Intrafamilial phenotypic variability
One more MYH9-related disease
Towards genotype–phenotype correlations?

Notes

References


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