FAMILIAL FANCONI SYNDROME WITH MALABSORPTION AND GALACTOSE INTOLERANCE, NORMAL KINASE AND TRANSFERASE-ACTIVITY - A REPORT ON 2 SIBLINGS
FAMILIAL FANCONI SYNDROME WITH MALABSORPTION AND GALACTOSE INTOLERANCE, NORMAL KINASE AND TRANSFERASE-ACTIVITY - A REPORT ON 2 SIBLINGS
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DOI：
10.1111/j.1651-2227.1981.tb05735.x
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发表时间：
1981-01-01
期刊：
影响因子：
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通讯作者：
ZETTERSTROM, R
中科院分区：
文献类型：
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作者：
APERIA, A;BERGQVIST, G;ZETTERSTROM, R
两个土耳其亚述血统的兄弟姐妹，其父母是第一代堂兄弟姐妹，食欲不佳，体重增加缓慢，精神运动发育迟缓。当喝牛奶时，血液中的半乳糖浓度增加。口服半乳糖负荷显示代谢半乳糖的能力显着降低。范可尼综合征与经典半乳糖血症一样存在。无半乳糖饮食减少了氨基酸尿，但没有使肾小管功能或儿童的一般状况正常化。红细胞中半乳糖激酶和半乳糖-1-磷酸尿苷转移酶活性正常。儿童的体貌（皮下脂肪稀疏、四肢纤细、腹部膨胀）以及维生素 A 和木糖吸收测试的结果符合吸收不良状况。葡萄糖显然是从肠道正常吸收的。没有证据表明有明显的原发性肝病。由于无半乳糖饮食无法使病情正常化，因此不太可能出现半乳糖代谢酶缺陷。提出了一种具有常染色体隐性遗传的更普遍的运输缺陷。
Two siblings of Turkish-Assyrian extraction, whose parents were 1st cousins, had poor appetite, slow weight gain and retarded psychomotor development. When given milk, the galactose concentration in blood increased. An oral galactose load showed a markedly reduced capacity to metabolize galactose. Fanconi syndrome was present as in classical galactosemia. A galactose-free diet reduced the aminoaciduria but did not normalize the renal tubular function nor the children''s general condition. Galactokinase and galactose-1-phosphate uridyltransferase activities in red blood cells were normal. The physical appearance of the children (sparse s.c. fat, thin extremities and distended abdomen) and the results of vitamin A and xylose absorption tests, were in accordance with a malabsorption condition. Glucose was apparently absorbed normally from the gut. There was no evidence of significant primary liver disease. Since the condition did not normalize with a galactose-free diet, an enzyme defect of galactose metabolism is unlikely. A more general transport defect with autosomal recessive inheritance is proposed.