Jellouli Manel, Ferjani Meriem, Abidi Kamel, Zarrouk Chokri, Abdelmoula Jaouida, Gargah Tahar
Department of Pediatric Nephrology, Charles Nicolle Hospital, Tunis, Tunisia.
Department of Clinical Biochemistry, Charles Nicolle Hospital, Tunis, Tunisia.
Saudi J Kidney Dis Transpl. 2017 Sep-Oct;28(5):1180-1183. doi: 10.4103/1319-2442.215119.
Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra-renal manifestations. In this report, we present the first case of transplanted nephropathic cystinosis in a Tunisian child. A 4-year-old Tunisian boy born to nonconsanguineous parents, was treated in our medical services in 1990 for cystinosis. Since the age of five months, he developed symptoms of severe weight loss, vomiting, dehydration, and polyuria. He manifested the Toni Debré Fanconi syndrome. Slit lamp examination of the anterior segment of both eyes revealed fine, shiny crystal-like deposits diffusely distributed in the corneal epithelium and the stroma. Our patient had renal failure. At the age of seven, he reached terminal chronic renal failure and was treated with peritoneal dialysis. Hemodialysis was started at the age of nine years. At the age of 13 years, he received a renal transplantation and was started on cysteamine 1999, five months after the renal transplantation. Currently, the patient is 28-year-old. The graft has survived 15 years after the transplantation. Renal functions were stable with a serum creatinine of 123 μmol/L at last follow-up.
胱氨酸病是一种常染色体隐性溶酶体贮积病，其特征是氨基酸胱氨酸在不同器官和组织中蓄积。它是一种多系统疾病，可出现肾脏和肾外表现。在本报告中，我们介绍了突尼斯一名儿童移植性肾病性胱氨酸病的首例病例。一名4岁突尼斯男孩，父母非近亲结婚，1990年因胱氨酸病在我们的医疗服务机构接受治疗。自5个月大起，他出现严重体重减轻、呕吐、脱水和多尿症状。他表现出托尼·德布雷范科尼综合征。双眼眼前节裂隙灯检查发现细小、闪亮的晶体样沉积物弥漫分布于角膜上皮和基质。我们的患者出现了肾衰竭。7岁时，他发展为终末期慢性肾衰竭，并接受了腹膜透析治疗。9岁时开始进行血液透析。13岁时，他接受了肾脏移植，并于1999年肾脏移植术后5个月开始使用半胱胺治疗。目前，患者28岁。移植肾在移植后存活了15年。最后一次随访时肾功能稳定，血清肌酐为123μmol/L。
