Epstein syndrome

Definition:

Epstein syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. It is linked to mutations in MYH9, the nonmuscle myosin heavy chain. It has been suggested that renoprotective treatment by renin-angiotensin system blockade is effective in reducing proteinuria in patients with MYH9 nephropathy.

References:

[1]. Alessandro Pecci, et al. Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). Nephrol Dial Transplant. 2008 Aug;23(8):2690-2. [Content Brief]

[2]. Clifford E Kashtan, et al. Genetic disorders of glomerular basement membranes. Nephron Clin Pract. 2011;118(1):c9-c18. [Content Brief]

[3]. Kyoung Hee Han, et al. Renal manifestations of patients with MYH9-related disorders. Pediatr Nephrol. 2011 Apr;26(4):549-55. [Content Brief]

[4]. Marie Claire Gubler, et al. Inherited diseases of the glomerular basement membrane. Nat Clin Pract Nephrol. 2008 Jan;4(1):24-37. [Content Brief]

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