Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure
Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure
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DOI：
10.1007/s004670100688
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发表时间：
2001-11-01
影响因子：
3
通讯作者：
Castello, MA
中科院分区：
文献类型：
--
作者：
Lubrano, R;Scoppi, P;Castello, MA
甲基丙二酸血症（MMA）是一种先天性有机酸代谢缺陷，发生在婴儿期，伴有张力减退、呕吐、脱水、嗜睡和发育不良，其生化特征为代谢性酮症酸中毒、高氨血症，有时还伴有高甘氨酸血症。其起因于甲基丙二酰辅酶A β活性缺乏，这是由于辅酶A β酶的缺陷或其辅因子维生素B-12代谢所需的酶之一的功能缺乏所致。肾小管间质性肾炎伴进行性肾功能损害是最常见的长期并发症之一。我们描述了一个17岁的女孩与甲基丙二酸血症无反应的维生素B-12治疗。临床症状在出生后4个月出现。她进展为终末期肾病，并于1996年1月开始接受血液透析治疗。1996年11月，我们进行了肾脏移植手术。目前，甲基丙二酸的尿排泄正常，移植肾的肾功能正常，没有任何排斥反应。我们认为，肾移植可能是一个很好的治疗，抽搐的选择代谢改变MMA与终末期肾病。事实上，似乎移植肾中存在的少量甲基丙二酰辅酶A酶活性足以确保有机酸的正常代谢。否则，可以通过限制蛋白质饮食来实现治疗目标。
Methylmalonic acidemia (MMA) is an inborn error of organic acid metabolism that occurs in infancy with hypotonia, vomiting, dehydration, lethargy and failure to thrive and is biochemically characterized by metabolic ketoacidosis, hyperammonemia and sometimes hyperglycinemia. It results from deficiency of methylmalonyl-CoA mutase activity due to a defect in the mutase apoenzyme or to deficient function of one of the enzymes required for metabolism of its cofactor vitamin B-12. Tubulointerstitial nephritis with progressive impairment of renal function is one of the most frequent longterm complications. We describe a case of a 17-year-old Girl with methylmalonic acidemia unresponsive to vitamin B-12 therapy. The clinical symptoms appeared at 4 months of life. She progressed into end stage renal disease and in January 1996 she started on hemodialytic treatment. In November 1996 we performed a kidney transplant. At present, urinary excretion of methylmalonic acid is normal and the renal function of the transplanted kidney is normal without any rejection episodes. We think that a kidney transplant could be a good therapeutic, tic choice for the metabolic alterations in MMA with end stage renal disease. Indeed it would seem that the small methylmalonyl-CoA mutase activity present in the transplanted kidney could be sufficient to ensure normal metabolism of organic acids. Otherwise, the therapeutic goal can be achieved with a protein-restricted diet.