Fibrinogen A alpha chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French family.
Amyloid
; 5(4): 279-84, 1998 Dec.
Article
in En
| MEDLINE
| ID: mdl-10036586
ABSTRACT
A French family with hereditary renal amyloidosis (HRA) was studied. The disease presented in 7 of the 8 affected individuals with proteinuria or the nephrotic syndrome. The age of onset was in the fifth decade of life. There is currently no sign of extrarenal involvement in any affected individual. However, the nephropathy in this family is progressive and led to terminal renal failure in 4 patients. Immunohistochemistry studies of glomerular amyloid deposits suggested that the amyloid protein was the fibrinogen A alpha chain. Direct DNA sequencing revealed a G 4993 T transversion and subsequently Arg 554 Leu mutation in the fibrinogen A alpha chain. This is the first description of this fibrinogen A alpha chain mutation in Europe. This family is of French descent and cannot be related to the previously reported Peruvian/Mexican and African-American kindreds.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Arginine
/
Fibrinogens, Abnormal
/
Amyloidosis
/
Kidney Diseases
/
Leucine
/
Mutation
Type of study:
Risk_factors_studies
Limits:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Amyloid
Journal subject:
BIOQUIMICA
Year:
1998
Type:
Article
Affiliation country:
France