Rodriguez-Soriano J, Rivera J M, Vallo A, Prats-Viñas J M, Castillo G
Helv Paediatr Acta. 1978 Apr;33(1):45-52.
A 2-year-old girl affected with the late infantile form of metachromatic leukodystrophy had a persistent and moderate metabolic acidosis. Renal functional studies demonstrated the presence of decreased tubular reabsorption of sodium, bicarbonate and some amino acids. Other tubular functions, including distal urinary acidification and concentrating mechanism were normal. Glomerular filtration rate was moderately decreased. Metachromatic inclusions were demonstrated along the nephron by histochemistry and electron microscopy. Tubular dysfunction in metachromatic leukodystrophy could have been overlooked until now given the severity of the neurological picture.
一名患有晚发性婴儿型异染性脑白质营养不良的2岁女童持续存在中度代谢性酸中毒。肾功能研究显示存在钠、碳酸氢盐和一些氨基酸的肾小管重吸收减少。其他肾小管功能，包括远端尿液酸化和浓缩机制均正常。肾小球滤过率中度降低。通过组织化学和电子显微镜检查在肾单位中发现了异染性包涵体。鉴于神经症状的严重性，异染性脑白质营养不良中的肾小管功能障碍可能至今一直被忽视。
