Methylmalonic and propionic acidaemias: Management and outcome
Methylmalonic and propionic acidaemias: Management and outcome
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DOI：
10.1007/s10545-005-7056-1
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发表时间：
2005-01-01
影响因子：
4.2
通讯作者：
Saudubray, JM
中科院分区：
文献类型：
--
作者：
de Baulny, HO;Benoist, JF;Saudubray, JM
有机酸尿症包括许多不同的病症。甲基丙二酸尿症（MMA）和丙酸尿症（PA）是最常见的疾病，也是我们对长期预后有较好了解的两种有机酸尿症，比较1990年前后出生的患者的预后，似乎更好的新生儿和长期管理提高了生存率。不到20%的患者在新生儿期或10岁之前死亡。然而，大多数存活的患者表现出营养状况差，生长迟缓，约40%存在某种内脏或神经功能障碍。MMA患者的发育结果可能有所改善，约40%的4岁以上患者的智商高于75。相反，智力发育不良是PA模式的规则，60%的人智商低于75，需要特殊教育。在少数患者中，成功的肝和/或肾移植导致了更好的生活质量，但不一定能预防神经系统和各种内脏并发症。这些结果强调，无论治疗策略如何，都需要进行永久的代谢随访。
Organic acidurias comprise many various disorders. Methylmalonic aciduria (MMA) and propionic aciduria (PA) are the most frequent diseases and the two organic acidurias for which we have better knowledge of the long-term outcome.Comparing the outcome of patients born before and after 1990, it appears that better neonatal and long-term management have improved the survival rate. Less than 20% of the patients died in either the neonatal period or before the age of 10 years. However, most surviving patients showed poor nutritional status with growth retardation and about 40% present some kind of visceral or neurological impairment. The developmental outcome may have improved in MMA patients, with IQ higher than 75 in about 40% patients aged more than 4 years. Conversely, poor intellectual development is the rule in PA patterns, with 60% having an IQ less than 75 and requiring special education. Successful liver and/or renal transplantations, in a few patients, have resulted in better quality of life but have not necessarily prevented neurological and various visceral complications. These results emphasize the need for permanent metabolic follow-up whatever the therapeutic strategy.