ATTR (THR59LYS) AMYLOIDOSIS WITH INVOLVEMENT OF HEART, PERIPHERAL AND AUTONOMIC NERVOUS SYSTEM, GUT AND SALIVARY GLANDS IN AN EGYPTIAN MAN, PREVIOUSLY DIAGNOSED AS 'FAMILIAL AMYLOID NEUROPATHY OF PORTUGUESE TYPE'

摘要

In 1984, we described the clinical value of immunohistochemistry with anti-ATTR-antibodies in the differential diagnosis of familial amyloid neuropathy (1). The question of whether the different clinical phenotypes of familial amyloid neuropathy in various kinships were produced by molecular differences in precursor proteins of the amyloid fibril protein or whether the amyloid protein was identical in all forms of familial amyloid neuropathy remained unanswered at that time. Since that time more than 80 different ATTR mutations have been identified (2) and the field has been reviewed (3). Here, the TTR-mutation of one of our patients has been elucidated and more of the patient's clinical information and family history has become available.