遗传性酪氨酸血症中的神经危机及肝移植后的完全逆转
Neurological crisis in hereditary tyrosinaemia and complete reversal after liver transplantation.
作者信息
Noble-Jamieson G, Jamieson N, Clayton P, Bailey S, Ryalls M, Barnes N D
机构信息
Department of Paediatrics, Addenbrooke's NHS Trust, Cambridge.
出版信息
Arch Dis Child. 1994 Jun;70(6):544-5. doi: 10.1136/adc.70.6.544.
Abstract
A 19 month old Indian girl with tyrosinaemia developed a severe generalised neuropathy involving both phrenic nerves. Treatment with haemarginate failed to improve her condition. After liver transplantation the raised concentrations of the neurotoxin delta amino-laevulinic acid returned to normal and gradual but complete neurological recovery occurred over a period of 13 months.
摘要
一名19个月大患酪氨酸血症的印度女孩出现了严重的全身性神经病变，累及双侧膈神经。用辛酰谷胱甘肽血红素治疗未能改善她的病情。肝移植后，神经毒素δ-氨基-γ-酮戊酸的浓度升高恢复正常，并且在13个月的时间里逐渐但完全恢复了神经功能。
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本文引用的文献
1
Neurologic crises in hereditary tyrosinemia.
N Engl J Med. 1990 Feb 15;322(7):432-7. doi: 10.1056/NEJM199002153220704.
2
Hematin therapy for the neurologic crisis of tyrosinemia.
J Pediatr. 1991 Jan;118(1):136-9. doi: 10.1016/s0022-3476(05)81867-0.
3
Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.
Lancet. 1992 Oct 3;340(8823):813-7. doi: 10.1016/0140-6736(92)92685-9.
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