hereditary amyloidosis
Misdiagnosis of hereditary amyloidosis as AL (Primary) amyloidosis
... of hereditary amyloidosis in al- most 10 percent of patients with a presumptive diag- nosis of systemic AL amyloidosis has several clinical ...cause hereditary amyloidosis evidently ...
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Identification of a new hereditary amyloidosis prealbumin variant, Tyr 77, and detection of the gene by DNA analysis
... with hereditary amyloidosis, a late-onset fatal ...in amyloidosis, and adds to the accumulating evidence that the prealbumin amyloidoses are more varied and prevalent than previously ...
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Gelsolin related amyloidosis Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin
... Finnish hereditary amyloidosis represents a new type of amyloid that is derived from an actin filament-binding region of a variant gelsolin molecule by limited ...
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Guideline of transthyretin-related hereditary amyloidosis for clinicians
... TTR amyloidosis induces a length-dependent peripheral neuropathy. Initially the lower limbs are affected, and symptoms generally include toe discomfort such as numbness and spontaneous pain. At this stage, as ...
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Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis
... Sequence analysis of the amyloid subunit protein showed it to be prealbumin with about two-thirds of the molecules containing a substitution of alanine for threonine at position 60.. Stu[r] ...
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Typing of hereditary renal amyloidosis presenting with isolated glomerular amyloid deposition
... AFib is an autosomal dominant hereditary amyloidosis, caused by the mutations in the coding region of the fi- brinogen Aα chain gene [3]. The penetrance of AFib is variable, nearly half of AFib patients ...
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Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene
... in hereditary cerebral hemorrhage with amyloidosis (Dutch type) ...of hereditary amyloidosis, the deposits are systemic even though the clinical presentation is usually dominated by ...
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Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases
... of amyloidosis, 62 first- degree relatives at risk, and 64 patients referred by the outpatient clinic and other institutions with suspected hereditary amyloidosis at the National Institute of Sci- ...
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AL Amyloidosis
... of amyloidosis, related to different protein precursors bearing an unstable tertiary structure enabling the formation of ...systemic amyloidosis: increased serum levels of serum amyloid A protein (SAA) in ...
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Hereditary cardiac amyloidosis associated with Pro24Ser transthyretin mutation: a case report
... of hereditary amyloidosis associated with the TTR mutation (Pro24Ser) has been reported previously ...systemic amyloidosis manifested as carpal tunnel syndrome, polyneuropathy, autonomic dysfunction, ...
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A new family with hereditary lysozyme amyloidosis with gastritis and inflammatory bowel disease as prevailing symptoms
... of amyloidosis, gastrointestinal tract in- volvement is very common but is often subclinical and the typical clinical presentations are also mostly nonspe- ...AL amyloidosis, hemorrhage, motility disorders, ...
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D25V apolipoprotein C III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile
... AL amyloidosis, the UK NHS Research and Development funds, the University College London Amyloidosis Research Fund and grants from the UK Medical Research Council (MR/K000187/1), the Rosetrees Trust/Royal ...
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New insights into the clinical evaluation of hereditary transthyretin amyloidosis patients: a single center's experience
... Since cardiomyopathy has been a problem after liver transplantation in late-onset V30M patients, especially males, who have a phenotype resembling that of senile systemic amyloidosis, the possibility that amyloid ...
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New simple and quick method to analyze serum variant transthyretins: direct MALDI method for the screening of hereditary transthyretin amyloidosis
... Background: Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is caused by a variant transthyretin (TTR), which is a serum protein secreted by the ...
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Trial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in patients with hereditary ATTR amyloidosis with polyneuropathy
... hATTR amyloidosis suggested that this score did not ad- equately capture sensation loss ...hATTR amyloidosis as this disease has a primarily axonal ...
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<p>Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care</p>
... hATTR amyloidosis are mainly aimed at detecting a possible in fi ltrative (hyper- trophic) cardiomyopathy and, above all, any potential ser- ious conduction disorders that may require the implantation of a ...
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Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review
... Lysozyme is a bacteriolytic enzyme synthesized by mac- rophages, hepatocytes and gastrointestinal cells, which was found in biological fluids such as tears, saliva, serum or urine [4]. Lysozyme amyloidosis is an ...
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Primary localized laryngeal amyloidosis presenting with hoarseness and dysphagia: a case report
... tion revealed a mass with a smooth surface. On macro- scopic inspection the cut sections were yellow-grey and solid with a soft and elastic consistency. On microscopy, it was not clear whether its structure was bundled ...
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Clinical management of gastrointestinal amyloidosis
... Colchicine, an alkaloid extracted from Colchicum autumnale of the lily family, is prescribed for treatment of diverse illnesses such as gout, Behçet’s disease and primary biliary cirrhosis [74]. This drug exerts ...
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Pseudotumoral tracheobronchial amyloidosis mimicking asthma: a case report
... Case presentation: We report the case of a 60-year-old Moroccan woman, complaining of dyspnea and wheezing for three years, who was treated at our institution for management of severe asthma. A bronchoscopy revealed a ...
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