West J C, Goodman S I, Schröter G P, Bloustein P A, Hambidge K M, Weil R
J Pediatr Surg. 1977 Oct;12(5):651-5. doi: 10.1016/0022-3468(77)90388-8.
In an experience of more than 700 kidney transplants, three recipients are known to have had congenital cystinosis. A cadaver kidney transplant in a 10 yr old child with nephropathic cystinosis functioned well for 7 1/2 yr before it was rejected and the graft was free of recurrent cystinosis after that interval. This prolongation of life was associated with marked accumulation of cystine in the patient's thyroid gland, presenting as a mass in the neck. If additional longevity is achieved in this patient, abnormal intracellular cystine accumulation may be expected in other host tissues. Retransplantation was carried out with the father as donor, accepting the possibility of increased cystine levels in the retransplant. This patient's age of 18 yr identifies him as one of the longest known survivors of infantile nephropathic cystinosis.
在超过700例肾移植的经验中,已知有3名受者患有先天性胱氨酸病。一名10岁患肾病性胱氨酸病的儿童接受了尸体肾移植,移植肾在被排斥前良好发挥功能达7年半,在此期间移植肾未出现复发性胱氨酸病。这种寿命延长与患者甲状腺中胱氨酸的显著蓄积有关,表现为颈部肿块。如果该患者获得更长寿命,预计其他宿主组织中会出现细胞内胱氨酸异常蓄积。以父亲为供体进行了再次移植,接受了再次移植中胱氨酸水平升高的可能性。该患者18岁,是已知患婴儿肾病性胱氨酸病存活时间最长的患者之一。