Division of Nephrology, Selçuklu School of Medicine, Selçuk University, Selçuklu, Konya, Turkey.
Ren Fail. 2010;32(9):1131-6. doi: 10.3109/0886022X.2010.509900.
Primary hyperoxaluria (PH) is a rare autosomal recessive disease caused by the functional defect of alanine-glyoxylate aminotransferase (AGT) enzyme in the liver and it is characterized by the deposition of diffuse calcium oxalate crystals. A 38-year-old male patient presented with history of recurrent nephrolithiasis and has received chronic hemodialysis treatment for 2 years. Cadaveric renal transplantation was applied to the case. The patient was reoperated on postoperative day 13 because of the collection surrounding the urethra. During this operation, kidney biopsy was made due to late decrease in creatinine levels. Deposition of diffuse oxalate crystal was detected in allograft kidney biopsy, whereas in the 0-hour biopsy there were no oxalate crystals. Oxalate level was found to be high in a 24-hour urine specimen (118 mg/L, normal level: 7-44 mg/L). The patient was identified with primary hyperoxaluria and followed up in terms of systemic oxalate deposition as well as allograft kidney. In the kidney biopsy taken after 18 months, we detected that oxalate crystals almost entirely disappeared. In our case, bilateral preretinal, intraretinal, and intravascular diffuse oxalate crystals were detected, and argon laser photocoagulation treatments were needed for choroidal and retinal neovascularization. Repeated ophthalmic examinations showed the regressive nature of oxalate depositions. In the 18th month, fundus examination and fluorescein angiography revealed that oxalate crystals were significantly regressed. To increase the quality of life and slow down the systemic effects of oxalosis, kidney-only transplantation is beneficial.
原发性高草酸尿症（PH）是一种罕见的常染色体隐性遗传病，由肝脏中丙氨酸-乙醛酸氨基转移酶（AGT）酶的功能缺陷引起，其特征是弥漫性草酸钙晶体沉积。一名 38 岁男性患者因反复肾结石病史，已接受慢性血液透析治疗 2 年。行尸体肾移植。术后第 13 天，因尿道周围积液再次手术。在此手术中，由于肌酐水平下降延迟，进行了肾活检。移植肾活检显示弥漫性草酸晶体沉积，而 0 小时活检无草酸晶体。24 小时尿液标本中草酸水平升高（118mg/L，正常水平：7-44mg/L）。患者被诊断为原发性高草酸尿症，并对系统性草酸沉积和移植肾进行了随访。在移植后 18 个月的肾活检中，我们发现草酸晶体几乎完全消失。在我们的病例中，双侧视网膜前、视网膜内和血管内弥漫性草酸晶体沉积，脉络膜和视网膜新生血管需要氩激光光凝治疗。反复的眼科检查显示草酸沉积的退行性。在第 18 个月，眼底检查和荧光素血管造影显示草酸晶体明显消退。为了提高生活质量并减缓草酸钙沉积的全身影响，仅进行肾脏移植是有益的。
