Molteni K H, Oberley T D, Wolff J A, Friedman A L
Department of Pediatrics, University of Wisconsin School of Medicine, Madison 53792.
Pediatr Nephrol. 1991 May;5(3):323-6. doi: 10.1007/BF00867492.
Methylmalonic acidemia is a heterogeneous inborn error of propionate metabolism. Therapy frequently includes a low-protein diet to minimize precursors of methylmalonic acid (MMA) and reduce its concentration in body tissues. Renal dysfunction in these patients is increasingly recognized. Tubulointerstitial disease has been found in the small number of renal biopsy specimens from young children previously reported by others. We describe an 18-year-old patient with the mut- form of the disease who developed renal dysfunction despite the use of a low-protein diet. Tubulointerstitial injury was documented by renal biopsy. The patient had no risk factors associated with established causes of chronic tubulointerstitial nephropathy (CTIN). We postulate that methylmalonyl-CoA and/or its precursors (propionyl-CoA, odd-chain fatty acids), may be capable of producing CTIN. We speculate that prevention of renal injury may require lower tissue levels of MMA and its precursors than those required for prevention of ketoacidosis.
甲基丙二酸血症是丙酸代谢的一种异质性先天性疾病。治疗通常包括低蛋白饮食，以尽量减少甲基丙二酸（MMA）的前体，并降低其在身体组织中的浓度。这些患者的肾功能障碍越来越受到关注。在其他人之前报道的少量幼儿肾活检标本中发现了肾小管间质性疾病。我们描述了一名18岁患有突变型该疾病的患者，尽管采用了低蛋白饮食，但仍出现了肾功能障碍。肾活检证实存在肾小管间质损伤。该患者没有与已确定的慢性肾小管间质性肾病（CTIN）病因相关的危险因素。我们推测，甲基丙二酰辅酶A和/或其前体（丙酰辅酶A、奇数链脂肪酸）可能能够导致CTIN。我们推测，预防肾损伤可能需要比预防酮症酸中毒更低的MMA及其前体组织水平。
