Follow-up and treatment of renal transplantation with nephropathic cystinosis in central Taiwan.
BACKGROUND
Cystinosis is a rare autosomal recessive disease caused by a defect in lysosomal cystine. The intracellular cystine accumulation causes damage in multiple organs and renal failure. We retrospectively evaluated the outcomes and complications of patients with nephropathic cystinosis after renal transplantation (RT) in Taiwan.


METHODS
Only 2 nephropathic cystinosis patients (siblings) had RT out of the 1,196 RTs in our hospital over the past 30 years. The younger sister received a living-related RT from her mother. The elder sister received a second cadaveric RT owing to chronic allograft rejection one-half year before.


RESULTS
They were diagnosed with cystinosis at ages 5 and 9 years, and received allografts at ages 13.4 (younger) and 19.8 and 26.4 (elder) years. They each experienced 1 episode of acute rejection at 6 months after the first RT. The elder sister suffered from obstructive nephropathy with progressive graft failure at age 26.4 years and was treated for vulvar condyloma and carcinoma in situ of cervix. The second graft kidney then maintained good kidney function. The younger sister delivered a girl without complication during gestation, and her renal function also remained good. At latest follow-up, they both had crystalline keratopathy and nephropathy, but no other system involvement.


CONCLUSIONS
The extrarenal complications with nephropathic cystinosis are high. These 2 siblings had only have ocular involvement without further cysteamine therapy. However, long-term follow-up is required to monitor development of complications and determine their prognoses.
Division of Nephrology, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.
Y-W
YW
Chuang
M-C
MC
Wen
M-J
MJ
Wu
K-H
KH
Shu
C-H
CH
Cheng
T-M
TM
Yu
S-T
ST
Huang
C-H
CH
Chen
D000328:Adult; D002648:Child; D002675:Child, Preschool; D003554:Cystinosis / Q000150:complications* / Q000235:genetics; D005198:Fanconi Syndrome; D005260:Female; D006084:Graft Rejection / Q000209:etiology / Q000601:surgery; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000601:surgery*; D016030:Kidney Transplantation / Q000009:adverse effects; D050498:Live Birth; D009404:Nephrotic Syndrome / Q000150:complications* / Q000235:genetics; D011247:Pregnancy; D012086:Reoperation; D012189:Retrospective Studies; D013624:Taiwan; D016896:Treatment Outcome; D055815:Young Adult