Sonobe H, Ogawa K, Takahashi I
Acta Pathol Jpn. 1976 Nov;26(6):727-38. doi: 10.1111/j.1440-1827.1976.tb00528.x.
The female patient was diagnosed as having Von Gierke's disease at 14 years of age, based on clinical manifestations, laboratory examination and liver biopsy. At 19 years of age she had uremia and died from its deterioration at 24 years of age. The parents were consanguineous, and a 27-year-old sister is presently hospitalized for renal insufficiency with hepatomegaly. On autopsy, the patient's kidneys were highly contracted and contained a number of small cysts, mainly in the medulla. Histological examination indicated periglomerular fibrosis, glomerular hyalinization, tubular atrophy or cystic dilatation and intersitial fibrosis with round cell infiltration. These findings correspond to Fanconi's familial juvenile nephronophthisis, except for age. The liver was markedly enlarged and indicated severe, glycogen deposits, but the kidney did not contain glycogen deposits. It can, therefore, be presumed that the renal lesions were not a secondary consequence of long-term glycogen deposits but that renal and hepatic lesions were associated with each other.
该女性患者14岁时根据临床表现、实验室检查及肝活检被诊断为冯·吉尔克病。19岁时出现尿毒症，24岁因病情恶化死亡。其父母为近亲结婚，一名27岁的姐姐目前因肾功能不全伴肝肿大住院。尸检时，患者的肾脏高度萎缩，有许多小囊肿，主要位于髓质。组织学检查显示肾小球周围纤维化、肾小球玻璃样变、肾小管萎缩或囊性扩张以及间质纤维化伴圆形细胞浸润。除年龄外，这些发现符合范科尼家族性青少年肾单位肾痨。肝脏明显肿大，有大量糖原沉积，但肾脏未发现糖原沉积。因此，可以推测肾脏病变并非长期糖原沉积的继发后果，而是肾脏和肝脏病变相互关联。
