Primary adrenal insufficiency due to hereditary apolipoprotein AI amyloidosis: endocrine
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involvement beyond hypogonadism 期刊名称： Amyloid the International Journal of Experimental & Clinical
Investigation the Official Journal of the International Society of Amyloidosis家访情况记录
作者： Pané, Adriana,Ruiz, Sabina,Orois, Aida,Martínez, Daniel,Squarcia,
Mattia,Sastre, Lydia,Ruiz, Pablo,Caballería, Joan,Mora, Mireia,Hanzu, Felicia
A,Halperin, Irene
铁门铁窗铁锁链年份： 2018年
关键词： Hereditary amyloidosis;apolipoprotein AI;endocrine dysfunction;adrenal insufficiency’ primary hypogonadism
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摘要：Several mutations in the gene encoding apolipoprotein AI (apoAI) have been described as a cau
of familial amyloidosis. Individuals with apoAI-derived (AApoAI) amyloidosis frequently manifest with liver, kidney, laryngeal, skin and myocardial involvement. Although primary hypogonadism (PH) is considered almost pathognomonic of this dia, until now, primary adrenal insufficiency (PAI) has not been described as a common clinical feature. Here, we report the first kindred with AApoAI amyloidosis in which PAI is well-documented. All family members with the Leu60_Phe71delins60Val_61Thr heterozygous mutation who were regularly followed-up at our centre were considered. Nineteen individuals had the confirmed APOA1 deletion/inrtion mutation, with detailed medical records available in 11 cas. Of the, 6 had PAI and 3 (all males)
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