HEREDITARY FRUCTOSE INTOLERANCE - DIFFICULT DIAGNOSIS IN ADULT
HEREDITARY FRUCTOSE INTOLERANCE - DIFFICULT DIAGNOSIS IN ADULT
复制标题
DOI：
10.1016/0002-9343(78)90767-2
复制
发表时间：
1978-01-01
影响因子：
5.9
通讯作者：
RINGOIR, S
中科院分区：
文献类型：
--
作者：
LAMEIRE, N;MUSSCHE, M;RINGOIR, S
一个21岁的妇女病毒性脑膜炎治疗外肠含果糖溶液。一个戏剧性的临床表现包括急性黄疸，并发严重的胃肠道出血发作，低血糖和明显的近端小管酸中毒。弥散性血管内凝血综合征被记录。范可尼综合征以重碳尿、糖尿、氨基酸尿和磷酸盐重吸收明显减少为特征，可正确诊断为以前未知的遗传性果糖不耐受。所有范可尼综合征症状在停止给药后48小时内消失。肝功能障碍持续3个月，恢复后肝脏果糖-1-磷酸醛缩酶降低。进行果糖耐量试验：开始输注果糖后60分钟内，血浆碳酸氢盐离子。**图**。从25 meq/l降至14 meq/l，尿。**图**排泄量从10增加到111。血浆磷酸盐从4.4 mg/100 ml下降到2.6 mg/100 ml，同时肾磷酸盐清除率从9 ml/min增加到20 ml/min。血浆尿酸和尿酸排泄量分别从3.2 mg/100 ml和0.3 mg/min增加到6.7 mg/100 ml和1.98 mg/min。血浆甲状旁腺激素（PTH）水平保持不变，而尿循环AMP排泄在果糖处理期间下降。存在肝功能障碍的生化证据。停用果糖后3小时内各项参数归一化。这个特殊的病例说明，常规给药含有果糖的溶液可能会引起不明遗传性果糖不耐受患者的戏剧性临床情况。近端小管酸中毒的发生可能提示这种疾病的存在。
A 21 yr old woman with viral meningitis was treated parenterally with fructose-containing solutions. A dramatic clinical picture developed consisting of an acute icterus, complicated by severe gastrointestinal hemorrhagic episodes, hypoglycemia and a pronounced proximal tubular acidosis. A syndrome of disseminated intravascular coagulation was documented. The presence of a Fanconi syndrome characterized by an important bicarbonaturia, glycosuria, aminoaciduria and a markedly decreased phosphate reabsorption led to the correct diagnosis of a previously unknown hereditary fructose intolerance. All symptoms of the Fanconi syndrome disappeared within 48 h after the i.v. administration of fructose was stopped. The hepatic dysfunction lasted for 3 mo. After recovery, a decreased liver fructose-1-phosphate-aldolase was found. An i.v. fructose tolerance test was performed: within 60 min after initiation of the fructose infusion, plasma bicarbonate ion .**GRAPHIC**. decreased from 25 to 14 meq/l and the urinary .**GRAPHIC**. excretion increased from 10 to 111 .mu.eq/min. Plasma phosphate decreased from 4.4 to 2.6 mg/100 ml, concomitantly with an increase in renal phosphate clearance from 9 to 20 ml/min. Both plasma uric acid and urinary acid excretion increased from 3.2 to 6.7 mg/100 ml and from 0.3 to 1.98 mg/min, respectively. Plasma parathyroid hormone (PTH) levels remained unchanged whereas the urinary cyclic AMP excretion decreased during fructose administration. Biochemical evidence of hepatic dysfunction was present. All parameters normalized within 3 h after withdrawal of the fructose. This exceptional case illustrates that routine administration of fructose-containing solutions can provoke a dramatic clinical situation in patients with unknown hereditary fructose intolerance. The occurrence of a proximal tubular acidosis may warn of this disorders existence.