655 Impaired diastolic heart function in familial amyloidotic polyneuropathy
نویسندگان
چکیده
منابع مشابه
Transthyretin-related familial amyloidotic polyneuropathy.
Transthyretin-related familial amyloidotic polyneuropathy (FAP) is a fatal hereditary amyloidosis. Until 20 years ago, FAP was thought to be restricted to endemic occurrence in certain areas. However, owing to progress in biochemical and molecular genetic analyses, FAP is now believed to occur worldwide. As of today, reports of about 100 different points of single or double mutations, or a dele...
متن کاملCombined heart and liver transplantation for familial amyloidotic polyneuropathy.
Familial amyloidotic polyneuropathy (FAP) is an inherited disease characterized by an abnormal systemic deposition of a mutant protein called transthyretin (TTR) with elective involvement of the peripheral nervous system, but often determining cardiac, gastrointestinal, and urinary tract dysfunction. FAP commonly affects the liver and the heart until end-organs failure. Transthyretin amyloidosi...
متن کاملPeritransplant gastrointestinal symptoms in familial amyloidotic polyneuropathy.
OBJECTIVES Gastrointestinal dysfunction is a common complication in familial amyloidotic polyneuropathy, and gastrointestinal symptoms are associated with a patient's nutritional status. The object of this study was to evaluate changes in peritransplant gastrointestinal symptoms and the nutritional status of familial amyloidotic polyneuropathy patients using the modified body mass index followi...
متن کاملGlial cells in familial amyloidotic polyneuropathy
INTRODUCTION Transthyretin V30M mutation is the most common variant leading to Familial Amyloidotic Polyneuropathy. In this genetic disorder, Transthyretin accumulates preferentially in the extracellular matrix of peripheral and autonomic nervous systems leading to cell death and dysfunction. Thus, knowledge regarding important biological systems for Transthyretin clearance might unravel novel ...
متن کاملFamilial amyloidotic polyneuropathy in Crete, Greece
Results The mean age of disease onset was 30 years (range: 27 to 43). All patients presented with paresthesias, temperature loss and progressive weakness at the lower extremities, urinary difficulties, diarrhea, postural dizziness and weight loss. The upper extremities were involved later during the disease progression. Neurological examination revealed loss of pain and temperature sensation in...
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ژورنال
عنوان ژورنال: European Journal of Echocardiography
سال: 2003
ISSN: 1525-2167
DOI: 10.1016/s1525-2167(03)91095-x