Dogulu Cigdem F, Tsilou Ekaterini, Rubin Benjamin, Fitzgibbon Edmond J, Kaiser-Kupper Muriel I, Rennert Owen M, Gahl William A
Laboratory of Clinical Genomics, National Institute of Child Health and Development, Opthalmic Clinical Genetics Section, National Institutes of Health, Bethesda, MD 20892-4429, USA.
J Pediatr. 2004 Nov;145(5):673-8. doi: 10.1016/j.jpeds.2004.06.080.
To report a high frequency of idiopathic intracranial hypertension (IIH) in patients with cystinosis and to speculate on the relationship between these two disorders.
Retrospective case series and review of the literature regarding risk factors for the development of IIH in cystinosis.
Eight patients with cystinosis had documented papilledema, normal neuroimaging of the brain, cerebrospinal fluid (CSF) opening pressure greater than 200 mm of H2O, and normal CSF composition. No common medication, condition, or disease except cystinosis was found in these persons. Six of the patients had received prednisone, growth hormone, cyclosporine, oral contraceptives, vitamin D, or levothyroxine at the time of onset of IIH. Five patients had previous renal transplants.
No single risk factor for the development of IIH linked IIH to cystinosis in our patients. However, thrombosis susceptibility as a result of renal disease or impaired CSF reabsorption in the arachnoid villi as a result of cystine deposition might lead to the development of IIH in cystinosis.
报告胱氨酸病患者中特发性颅内高压（IIH）的高发病率，并推测这两种疾病之间的关系。
回顾性病例系列研究，并对有关胱氨酸病患者发生IIH的危险因素的文献进行综述。
8例胱氨酸病患者有记录的视乳头水肿，脑部神经影像学检查正常，脑脊液（CSF）初压大于200mmH₂O，脑脊液成分正常。这些患者除胱氨酸病外未发现常见药物、病症或疾病。6例患者在IIH发病时接受过泼尼松、生长激素、环孢素、口服避孕药、维生素D或左甲状腺素治疗。5例患者曾接受过肾移植。
在我们的患者中，没有单一的IIH发病危险因素将IIH与胱氨酸病联系起来。然而，肾病导致的血栓形成易感性或胱氨酸沉积导致蛛网膜绒毛中脑脊液重吸收受损可能导致胱氨酸病患者发生IIH。
