Gahl W A, Kaiser-Kupfer M I
Human Genetics Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892.
Pediatr Nephrol. 1987 Jul;1(3):260-8. doi: 10.1007/BF00849221.
Fifteen patients with nephropathic cystinosis, ranging in age from 13 to 27 years, were studied. Two were in renal failure; 13 had functioning renal allografts; 5 had severe, uncorrectable loss of visual acuity as well as posterior synechiae and crystal deposits on the lens surface. All 15 patients had photophobia and corneal erosions to variable degrees. All patients were growth retarded with delayed bone ages. Puberty occurred late, but was generally complete by 17 years of age. Hepatic function appeared normal. Only 1 patient had neurological deterioration, but 11 patients had some degree of cerebral atrophy radiologically. The continued accumulation of cystine within cystinotic tissues results in serious extrarenal complications many years after renal transplantation in cystinosis.
对15例年龄在13至27岁之间的肾病性胱氨酸病患者进行了研究。其中2例处于肾衰竭状态；13例拥有功能正常的肾移植；5例有严重且无法矫正的视力丧失，以及晶状体表面的虹膜后粘连和晶体沉积。所有15例患者均有不同程度的畏光和角膜糜烂。所有患者均生长发育迟缓，骨龄延迟。青春期出现较晚，但一般在17岁时完成。肝功能似乎正常。只有1例患者出现神经功能恶化，但11例患者在影像学上有一定程度的脑萎缩。在胱氨酸病患者肾移植多年后，胱氨酸在胱氨酸病组织内的持续蓄积会导致严重的肾外并发症。
