Diagnosis of molybdenum cofactor deficiency
Diagnosis of molybdenum cofactor deficiency
复制标题
钼辅因子缺乏症的诊断
DOI：
10.1016/s0140-6736(05)75473-8
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发表时间：
1999
期刊：
影响因子：
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通讯作者：
A. V. Gennip
中科院分区：
文献类型：
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作者：
H. Simmonds;Gf Hoffmann;J. Perignon;V. Micheli;A. V. Gennip
mr - hartmut Koch（12月5日，1824页）1正确地提请注意关于钼辅助因子缺乏症的正确诊断的两点：第一，在提醒医疗或实验室工作人员需要进一步调查嘌呤代谢方面，单个亚硫酸盐试油条试验的不可靠性；第二，尿酸测量对新生儿癫痫发作的重要性。然而，对于主治医生或调查实验室来说，还有一些额外的困难可能会模糊诊断。并不是所有的病例都表现为新生儿血浆和尿液中缺乏尿酸，这是这种疾病的典型特征。虽然这一观察结果适用于大多数早期患者，但缺陷表达的表型变异现在是显而易见的。迟到者的血浆尿酸可能处于儿童正常范围的底端。由于肾脏清除率高，儿童血浆尿酸较成人低，因此诊断很可能被遗漏或延误。例如，一个8岁的健康的兄弟姐妹在Moorfields眼科医院就诊，因为晶晶体脱位，但只有在家庭筛查时才发现，而一个12个月大时出现神经系统问题的妹妹在2岁时被诊断为持续的低血浆尿酸盐，所有其他测试均为阴性。3应在任何一种情况下，或在任何试纸试验阳性的患者（也可能表明分离的亚硫酸盐氧化酶）中确认辅因子缺乏
Sir—Hartmut Koch (Dec 5, p 1824) 1 rightly draws attention to two points about correct diagnosis of molybdenum cofactor deficiency: first, the unreliability of a single sulphite dipstick test in alerting medical or laboratory staff to the need for further investigations of purine metabolism; and second, the importance of uric acid measurement for neonatal seizures. However, there are several additional difficulties for the attending physicians or investigating laboratories which might obscure diagnosis. Not all cases present neonatally with a virtual absence of uric acid in plasma and urine, the classic hallmark of this disorder. 2 Although this observation applies to most early presenters, phenotypic variation in expression of the defect is now evident. Late presenters can have plasma uric acid at the bottom end of the normal range for children. Since children have a low plasma uric acid compared with adults because of a high renal clearance, diagnosis may well be missed, or delayed. 3 For example, an 8-year-old otherwise healthy sibling attending Moorfields Eye Hospital for dislocated lenses was identified only during family screening when a younger sister with neurological problems developing at 12 months was diagnosed at age 2 years from a persistently low plasma urate, all other tests having proved negative. 3 Confirmation of the cofactor deficiency should be made in either instance, or in any patient with a positive dipstick test (which could also indicate isolated sulphite oxidase