160 DIFFUSE FIBROSIS IN ALSTRöM SYNDROME: A MARKER OF DISEASE PROGRESSION
نویسندگان
چکیده
منابع مشابه
Alström syndrome: a paradigm for diffuse fibrosis and clinical progression
Background Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder characterised by progressive endocrine disarray, sensorineural deficit, cardiac, renal, and hepatic abnormalities. Idiopathic infantile dilated cardiomyopathy (CMP) is common, presenting acutely in 45% of individuals and recurs or develops de novo in 65% of adolescents with high rates of morbidity and mortality. M...
متن کاملAdvanced non-alcoholic fatty liver disease and adipose tissue fibrosis in patients with Alström syndrome.
BACKGROUND AND AIMS Alström syndrome (AS) is a recessive monogenic syndrome characterized by obesity, extreme insulin resistance and multi-organ fibrosis. Despite phenotypically being high risk of non-alcoholic fatty liver disease (NAFLD), there is a lack of data on the extent of fibrosis in the liver and its close links to adipose in patients with AS. Our aim was to characterize the hepatic an...
متن کاملAlström syndrome
RATIONALE Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others. PATIENT CONCERN A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness. DIAGNOSIS Alström syndrome. INTERVENTIONS Multidisciplinary team approach, with echocardiography, hearin...
متن کاملDiffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study
BACKGROUND Alström syndrome is a rare inherited ciliopathy with progressive multisystem involvement. Dilated cardiomyopathy is common in infancy and recurs or presents de novo in adults with high rates of premature cardiovascular death. Although Alström syndrome is characterised by fibrosis in solid organs such as the liver, the pathogenesis of related cardiomyopathy are not clear. To date it i...
متن کاملAlström syndrome: current perspectives
Alström syndrome (ALMS) is a rare genetic disorder that has been included in the ciliopathies group, in the last few years. Ciliopathies are a growing group of diseases associated with defects in ciliary structure and function. The development of more powerful genetic approaches has been replaced the strategies to follow for getting a successful molecular diagnosis for these patients, especiall...
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ژورنال
عنوان ژورنال: Heart
سال: 2013
ISSN: 1355-6037,1468-201X
DOI: 10.1136/heartjnl-2013-304019.160