Helmy Rasha, Atia Fatma M, Soliman Neveen A
Faculty of Medicine, Center of Pediatric Nephrology and Transplantation, Cairo University, Cairo, Egypt.
Cairo university Children Hospitals, Kasraliny medical school, Cairo university, Cairo, Egypt.
Ital J Pediatr. 2025 Apr 7;51(1):110. doi: 10.1186/s13052-025-01943-7.
Nephropathic Cystinosis is a rare autosomal recessive lysosomal storage disorder. In addition to kidney dysfunction, this disorder can also affect other organs, such as the eyes, thyroid, muscles, and central nervous system.
The current cross-sectional study included 56 patients with nephropathic cystinosis to evaluate the clinical outcome in nephropathic cystinosis patients cohort with regarding kidney function and the need for kidney replacement therapy. Clinical and laboratory data were collected.
Among the 56 patients in our study, 32 (57.1%) were male. Furthermore, 52 (92%) of these patients were offspring of consanguineous marriage. Patients' mean age was 116.96 ± 54.1 months, and the mean onset of nephropathic cystinosis suggestive symptoms was 7.63 ± 3.2 months. In addition, the mean age of confirmed diagnosis was 45.38 ± 35.3 months, and the mean age of end-stage kidney disease (ESKD) was 104 ± 25.7 months. Eighteen patients (32.1%)underwent hemodialysis, whereas 12 patients (21.4%) underwent kidney transplantation. When comparing siblings within the same family, we observed a significant difference in the age at diagnosis. The median age for the first sibling was 60 months, while it was 24 months for the second sibling (p-value = 0.031). Additionally, there were significant differences in weight, chronic kidney disease (CKD) stage, and outcome.
Improvement in the awareness and the accessibility to diagnosis over years, early sibling screening, and kidney transplantation have a significant impact on the survival of both patients and kidney in children with nephropathic cystinosis.
肾病型胱氨酸病是一种罕见的常染色体隐性溶酶体贮积症。除了肾功能障碍外，这种疾病还会影响其他器官，如眼睛、甲状腺、肌肉和中枢神经系统。
当前的横断面研究纳入了56例肾病型胱氨酸病患者，以评估肾病型胱氨酸病患者队列中关于肾功能和肾脏替代治疗需求的临床结果。收集了临床和实验室数据。
在我们研究的56例患者中，32例（57.1%）为男性。此外，这些患者中有52例（92%）是近亲结婚的后代。患者的平均年龄为116.96±54.1个月，肾病型胱氨酸病提示症状的平均发病年龄为7.63±3.2个月。此外，确诊的平均年龄为45.38±35.3个月，终末期肾病（ESKD）的平均年龄为104±25.7个月。18例患者（32.1%）接受了血液透析，而12例患者（21.4%）接受了肾脏移植。在比较同一家庭中的兄弟姐妹时，我们观察到诊断年龄存在显著差异。第一个兄弟姐妹的中位年龄为60个月，而第二个兄弟姐妹为24个月（p值=0.031）。此外，体重、慢性肾脏病（CKD）分期和结局也存在显著差异。
多年来诊断意识和可及性的提高、早期兄弟姐妹筛查以及肾脏移植对肾病型胱氨酸病患儿的患者和肾脏存活均有显著影响。
