Elsevier

Transplantation Proceedings

Volume 44, Issue 1, January–February 2012, Pages 80-82
Transplantation Proceedings

Transplant candidates
Follow-up and Treatment of Renal Transplantation with Nephropathic Cystinosis in Central Taiwan

https://doi.org/10.1016/j.transproceed.2011.12.071Get rights and content

Abstract

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.

Section snippets

Methods

A retrospective analysis of the case histories of 1,196 RT patients in our hospital over the past 30 years was performed and showed that there were only 2 patients (siblings) with nephropathic cystinosis after RT. The sisters, aged 5 and 9 years old, were diagnosed with cystinosis by documenting corneal cystine crystal accumulation. After diagnosis they began cysteamine treatment until transplantation. We evaluated their height, central nervous and muscular systems, ocular manifestations,

Results

Two sisters had received renal biopsies before RT. The pathology of the original kidneys showed accumulation of cystine within renal tubules (Fig 1). The elder sister did not receive any renal replacement therapy before RT and received her first allograft at age 19.8 years. The young sister had received hemodialysis for 2 months at age 13.4 years owing to ESRD, and then received an allograft transplant from her mother. They each experienced 1 episode of acute rejection at 6 months after the

Discussion

Renal transplantation and treatment with cysteamine indeed improves the outcome of cystinosis, and this potentially fatal disease is now treatable. Our patients presented with corneal cystine accumulation and nephropathy. After transplantation, they both maintained good allograft function. One of them even successfully gave birth to a child without any complications.

Lawson et al4 and Hory et al9 reported a total of 4 cystinotic children who received RT. Morphologic studies of renal tubules

Conclusion

There are many extrarenal complications resulting from nephropathic cystinosis, but in our 2 cases (siblings), cysteamine therapy was not used to attenuate the intracellular cystine accumulation, and at the latest follow-up only ocular involvement was noted. There was a small sample size in the present study, so it may not be possible to generalize these findings to larger populations. Further studies with a larger number of patients are needed to monitor complications and establish prognoses.

References (11)

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