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Abstract：
Juvenile hemochromatosis (JH), type 2A hemochromatosis, is a rare autosomal recessive disorder of systemic iron overload due to homozygous mutations of HJV (HFE2), which encodes hemojuvelin, an essential regulator of the hepcidin expression, causing liver fibrosis, diabetes, and heart failure before 30 years of age, often with fatal outcomes. We report two Japanese sisters of 37 and 52 years of age, with JH, who showed the same homozygous HJV I281T mutation and hepcidin deficiency and who both responded well to phlebotomy on an outpatient basis. When all reported cases of JH with homozygous HJV mutations in the relevant literature were reviewed, we found-for the first time-that JH developed in females and males at a ratio of 3:2, with no age difference in the two groups. Furthermore, we found that the age of onset of JH may depend on the types of HJV mutations. In comparison to patients with the most common G320V/G320V mutation, JH developed earlier in patients with L101P/L101P or R385X/R385X mutations and later in patients with I281T/I281T mutations.
摘要：
青少年血色素沉着病（JH），2A型血色素沉着病,是由于HJV（HFE2）的纯合突变引起的系统性铁超负荷的罕见常染色体隐性遗传疾病，编码血液中的胡维林，铁调素表达的重要调节剂，导致肝纤维化，糖尿病,和30岁之前的心力衰竭，往往有致命的结果。我们报道了两个37岁和52岁的日本姐妹，JH,谁表现出相同的纯合HJVI281T突变和铁调素缺乏症，并且在门诊基础上对静脉切开术反应良好。回顾了相关文献中所有报道的具有纯合子HJV突变的JH病例，我们首次发现，JH在女性和男性中以3:2的比例发展，两组没有年龄差异。此外，我们发现JH的发病年龄可能取决于HJV突变的类型。与最常见的G320V/G320V突变患者相比，JH在L101P/L101P或R385X/R385X突变患者中发展较早，在I281T/I281T突变患者中发展较晚。
