KEGG   DISEASE: Epstein syndromeHelp
Entry
H00578                      Disease                                

Name
Epstein syndrome;
Fechtner syndrome
Description
Epstein and Fechtner syndromes are rare autosomal dominant progressive nephropathies associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. Fechtner syndrome shows the additional features of cataracts and blue leukocyte inclusion bodies (Doehle-like bodies). Both disorders are 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.
Category
Kidney disease; Hematologic disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H00578  Epstein syndrome
Human diseases in ICD-10 classification [BR:br08403]
 3. Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89)
  D65-D69  Coagulation defects, purpura and other haemorrhagic conditions
   D69  Purpura and other haemorrhagic conditions
    H00578  Epstein syndrome
BRITE hierarchy
Pathway
Tight junction
Regulation of actin cytoskeleton
Gene
MYH9 [HSA:4627] [KO:K10352]
Drug
Ramipril [DR:D00421]
Telmisartan [DR:D00627]
Losartan [DR:D00357]
Comment
See also H00233 MYH9-related disease.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:18094725 (gene, description)
  Authors
Gubler MC
  Title
Inherited diseases of the glomerular basement membrane.
  Journal
Nat Clin Pract Nephrol 4:24-37 (2008)
DOI:10.1038/ncpneph0671
Reference
PMID:21071975 (gene, description)
  Authors
Kashtan CE, Segal Y
  Title
Genetic disorders of glomerular basement membranes.
  Journal
Nephron Clin Pract 118:c9-c18 (2011)
DOI:10.1159/000320876
Reference
PMID:21210153 (gene, description)
  Authors
Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI
  Title
Renal manifestations of patients with MYH9-related disorders.
  Journal
Pediatr Nephrol 26:549-55 (2011)
DOI:10.1007/s00467-010-1735-3
Reference
PMID:18503011 (drug)
  Authors
Pecci A, Granata A, Fiore CE, Balduini CL
  Title
Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome).
  Journal
Nephrol Dial Transplant 23:2690-2 (2008)
DOI:10.1093/ndt/gfn277

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