Clinical Associate Professor
Division of Pediatric Nephrology
University of Florida
Short-term renal allograft outcome in adolescents with nephropathic cystinosis: a single center longitudinal study
Ratna Acharya1, Rachel Bush1, Felicia Johns1, Kiran Upadhyay1.
1Division of Pediatric Nephrology, Department of Pediatrics, University of Florida, Gainesville, FL, United States
Nephropathic cystinosis (NC) is a rare, autosomal recessive lysosomal disorder caused by mutations of the CTNS gene and is an important cause of renal Fanconi syndrome. End stage renal disease usually occurs during mid to late adolescent years. We present a single center longitudinal data of a cohort of three adolescents with infantile NC who received four kidney transplants (KT, 3 deceased donor and 1 living related) between June 2018 and July 2020 in Southeastern United States. The median age at KT was 15.5 years (13.6-17.5 years). All three were Caucasians and had pre-emptive KT; two were females. Induction immunosuppression (IS) consisted of ThymoglobulinR (n=3) and basiliximab (n=1). Native nephrectomies were not performed at the time of KT. Maintenance IS was with tacrolimus and mycophenolate. All were on steroid withdrawal protocol except for the one who received second KT. At the time of KT, all patients with cystinosis had corneal cystine deposits; none had diabetes and hypothyroidism. Cystinosis was maintained with cysteamine bitartrate (ProcysbiR in one and CystagonR in two), potassium and alkali therapy. Leukocyte cystine content was at goal range throughout the post-KT course. All of them received CystaranR eye drops. Two patients had bilateral retroperitoneal native nephrectomies done between six to nine weeks post KT due to polyuria, dehydration and acute kidney injury. One patient lost the allograft two years later from resistant acute rejection (AR) secondary to reduction of IS due to EBV viremia. This patient was retransplanted after a month and has a well-functioning allograft 26 months later without episodes of AR. Other two patients also sustained AR episodes due to medication non-compliance and had to be started on steroid. Besides non-hypertension related bilateral grade III papilledema without vision loss in one patient, no other cystinosis specific complications occurred. The height percentiles were < 1st percentile at the time of transplant for all which increased to a median of 4.55 percentile, median z score -1.69 (2.7-18.67 percentiles, z scores: -0.89 to -1.92) without growth hormone therapy during the most recent follow-up. Median body mass index was 27.07 (21.4-28.2 kg/m2). All three patients have functioning allografts during a median transplant vintage of 27 months (26-50 months) with a current median estimated glomerular filtration rate (eGFR) of 74.2 (24.7- 90.8 ml/min/1.73 m2, CKiD U25 eGFR). Two of them remained hypertensive at last follow-up and were taking antihypertensive agents. In the current era of IS, our data suggests that excellent allograft survival is expected, at least for the short term. Native nephrectomy/ies may be needed at the time of transplant for prolonged graft survival.
[1] Ehrich JH, Brodehl J, Byrd DI, Hossfeld S, Hoyer PF, Leipert KP, Offner G, Wolff G. Renal transplantation in 22 children with nephropathic cystinosis. Pediatr Nephrol..1991 Nov;5(6):708-714
[2] Malekzadeh MH, Neustein HB, Schneider JA, Pennisi AJ, Ettenger RB, Uittenbogaart CH, Kogut MD, Fine RH. Cadaver renal transplantation in children with cystinosis. Am J Med.. 1977 Oct;63(4):525-33.
When | Session | Talk Title | Room |
---|---|---|---|
Sat-25 18:00 - 19:15 |
P6- Kidney Posters | Short-term renal allograft outcome in adolescents with nephropathic cystinosis: a single center longitudinal study | Zilker 1-2 |