Lowe 氏跟脑肾综合征是一种罕见的遗传性疾病。男性发病,以双侧先天性白内障、青光眼、肌张力明显减低、腱反射消失、严重智力缺陷、佝偻病、蛋白尿、高氨基酸尿、以及轻重不等的肾小管酸中毒为特征。其病因未明,代谢性酸中毒可能由予肾脏产氨减少或碳酸氢盐再吸收不足所致;曾有 Lowe’s syndrome and brain-kidney syndrome is a rare genetic disease. Male onset, with bilateral congenital cataracts, glaucoma, significantly reduced muscle tone, disappearance of tendon reflex, severe mental retardation, rickets, proteinuria, high amino aciduria, and severity of tubular acidosis characterized by varying degrees. The etiology is not yet clear, metabolic acidosis may be caused by the reduction of ammonia production of hydrogen carbonate or bicarbonate reabsorption due to