Literature DB >> 2564248

Genetic amyloidosis: recent advances.

M D Benson1, M R Wallace.   

Abstract

The hereditary amyloidoses are usually associated with peripheral neuropathy and, for this reason, they have been called familial amyloidotic polyneuropathy (FAP). The neuropathy usually involves both the peripheral sensory motor and autonomic nervous systems, resulting in not only loss of sensation and motor function but also bowel dysfunction and orthostatic hypotension. In addition, most of the FAP syndromes involve other organ systems, in particular the renal and cardiac systems. Renal amyloidosis usually presents as nephrotic syndrome and later terminates in azotemia. Cardiac amyloidosis may present as congestive heart failure or arrhythmia. Whereas the neuropathy of hereditary amyloidosis may be the most prominent clinical feature, it is renal or cardiac disease that often dictates the length of survival.

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Year:  1989        PMID: 2564248

Source DB:  PubMed          Journal:  Adv Nephrol Necker Hosp        ISSN: 0084-5957


  1 in total

1.  Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV).

Authors:  R D Steiner; T Paunio; T Uemichi; J P Evans; M D Benson
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

  1 in total

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