Hiramatsu M, Karashima S, Hattori S, Matsuda I, Maeda H
Int J Pediatr Nephrol. 1984 Sep;5(3):183-6.
The case of a 3 year-old boy with congenital nephrotic syndrome is reported, in whom decreased LCAT activity and hypothyroidism were also present. Renal biopsy confirmed a diffuse proliferative glomerulonephritis with a large number of foam cells in the capillary lumen of the glomerulus and the interstitium, which stained positively with acid phosphatase indicating the presence of macrophage with phagocyted lipid vacuole. The histological picture was similar to that of familial LCAT deficiency, but the reported case is one of secondary LCAT deficiency as a result of urinary loss of the enzyme. Replacement therapy with thyroid hormones resulted in improvement in growth and development.
报道了一名3岁先天性肾病综合征男孩的病例，该男孩同时存在卵磷脂胆固醇酰基转移酶（LCAT）活性降低和甲状腺功能减退。肾活检证实为弥漫性增殖性肾小球肾炎，肾小球毛细血管腔和间质中有大量泡沫细胞，这些细胞酸性磷酸酶染色呈阳性，表明存在吞噬脂质空泡的巨噬细胞。组织学表现与家族性LCAT缺乏症相似，但该报道病例是由于该酶经尿液丢失导致的继发性LCAT缺乏。甲状腺激素替代治疗使生长发育得到改善。
