Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease
Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease
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DOI：
10.1007/bf01799348
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发表时间：
1996-01-01
影响因子：
4.2
通讯作者：
Chen, YT
中科院分区：
文献类型：
--
作者：
McConkieRosell, A;Wilson, C;Chen, YT
IV型糖原累积病（分支酶缺乏症，GSD IV）的经典临床表现是肝脾肿大，在出生后的前18个月内无法茁壮成长，随后是进行性肝衰竭和5岁时死亡。虽然有两名患者没有明显的肝脏进展，但没有长期随访的临床数据。我们在这里介绍了四名患者的非进展性肝脏形式的GSD IV的临床谱，以及对年龄最大的患者（13岁和20岁）的长期随访。没有人发展为进行性肝硬化、骨骼肌、心脏或神经系统受累，也没有人接受过移植。分支酶活性也测定培养的皮肤成纤维细胞与经典的肝脏进行性，早期新生儿致命的，和非进行性肝脏介绍GSD IV的患者。没有进展的患者中的残留分支酶活性与其他形式的没有区别，不能用于预测临床过程。我们的数据表明GSD IV并不总是需要肝移植，在咨询患者GSD IV的预后时应谨慎。在推荐肝移植之前，应仔细监测患者的进展证据。
The classic clinical presentation for type IV glycogen storage disease (branching enzyme deficiency, GSD IV) is hepatosplenomegaly with failure to thrive occurring in the first 18 months of life, followed by progressive liver failure and death by age 5 years. Although there have been two patients without apparent liver progression previously reported, no long-term follow-up clinical data have been available. We present here the clinical spectrum of the non-progressive liver form of GSD IV in four patients, and long-term follow-up of the oldest identified patients (ages 13 and 20 years). None has developed progressive liver cirrhosis, skeletal muscle, cardiac or neurological involvement, and none has been transplanted. Branching enzyme activity was also measured in cultured skin fibroblasts from patients with the classic liver progressive, the early neonatal fatal, and the non-progressive hepatic presentations of GSD IV. The residual branching enzyme activity in the patients without progression was not distinguishable from the other forms and could not be used to predict the clinical course. Our data indicate that GSD IV does not always necessitate hepatic transplantation and that caution should be used when counselling patients regarding the prognosis of GSD IV. Patients should be carefully monitored for evidence of progression before recommending liver transplantation.