Cantani A, Giardini O, Ciarnella Cantani A
Am J Ophthalmol. 1983 May;95(5):713-4. doi: 10.1016/0002-9394(83)90401-4.
The biochemical hallmark of nephropathic cystinosis is the intralysosomal accumulation of free cystine in various organs, including the conjunctiva, cornea, bone marrow, leukocytes, lymph nodes, and internal organs. A patient with the infantile form of nephropathic cystinosis develops several renal tubular malfunctions during the first year of life; these eventually lead to end-stage renal failure and eventual death by the time the patient is 10 years of age. Ocular changes are prominent and may be so typical that an early diagnosis can be achieved by an ophthalmologic examination before the nephropathic signs become evident.
肾病型胱氨酸病的生化特征是游离胱氨酸在包括结膜、角膜、骨髓、白细胞、淋巴结和内脏等多种器官的溶酶体内蓄积。患有婴儿型肾病型胱氨酸病的患者在出生后第一年就会出现多种肾小管功能障碍；这些最终会导致终末期肾衰竭，并在患者10岁时最终死亡。眼部变化很突出，可能非常典型，以至于在肾病症状明显之前通过眼科检查就能早期诊断。
