HOMOZYGOSITY FOR HEMOCHROMATOSIS - CLINICAL MANIFESTATIONS
HOMOZYGOSITY FOR HEMOCHROMATOSIS - CLINICAL MANIFESTATIONS
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DOI：
10.7326/0003-4819-93-4-519
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发表时间：
1980-01-01
影响因子：
39.2
通讯作者：
AMOS, DB
中科院分区：
文献类型：
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作者：
EDWARDS, CQ;CARTWRIGHT, GE;AMOS, DB
通过家系研究确定了血色病的纯合子[35]。13人无症状。关节病20例，肝肿大19例，转氨酶血症16例，皮肤色素沉着15例，脾肿大14例，肝硬化14例，性腺功能减退6例，糖尿病2例。无纯合子发生充血性心力衰竭。只有一个有肝肿大，色素沉着和糖尿病三联征。35例中有30例血清铁升高，所有35例中转铁蛋白饱和度升高，32例中有23例血清铁蛋白升高，33例中有28例去铁胺后尿铁排泄升高，33例中有32例肝实质细胞铁排泄升高，27例中有27例肝铁排泄升高。男性的铁负荷是女性的2.7倍。无女性发生肝硬化。无症状血色病的诊断很重要，因为早期治疗可以防止器官损害。早期血色素沉着症的临床诊断是困难的。不明原因的转铁蛋白饱和度升高的人应进行血色素沉着症的研究。
Homozygotes [35] were identified for hemochromatosis through pedigree studies. Thirteen were asymptomatic. Arthropathy was present in 20, hepatomegaly in 19, transaminasemia in 16, skin pigmentation in 15, splenomegaly in 14, cirrhosis in 14, hypogonadism in 6 and diabetes in 2. No homozygote was in congestive failure. Only one had the triad of hepatomegaly, hyperpigmentation and diabetes. Serum Fe was increased in 30 of 35, transferrin saturation was increased in all 35, serum ferritin in 23 of 32, urinary Fe excretion after deferoxamine in 28 of 33, hepatic parenchymal cell stainable Fe in 32 of 33 and hepatic Fe in 27 of 27. Iron loading was 2.7 times greater in men than in women. No female had hepatic cirrhosis. Diagnosis of asymptomatic hemochromatosis is important because organ damage may be prevented by early therapy. Clinical diagnosis of early hemochromatosis is difficult. Persons with unexplained elevation of transferrin saturation should be studied for hemochromatosis.