P.301 Oxalate retinopathy is irreversible despite early combined liver-kidney transplantation in primary hyperoxaluria type 1
Monday May 06, 2019 from 17:00 to 18:00
Exhibit-Poster Area

Florian Brinkert, Germany

Consultant Hepatologist

Pediatric Gastroenterology and Hepatology

University Medical Center Hamburg-Eppendorf


Oxalate retinopathy is irreversible despite early combined liver-kidney transplantation in primary hyperoxaluria type 1

Florian Brinkert1, Yevgeniya Atiskova2, Simon Dulz2, Kaja Schmäschke1, Jun Oh3, Markus J. Kemper4.

1Pediatric Gastroenterology and Hepatology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; 2Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; 3Pediatric Nephrology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; 4Department of Pediatrics, Asklepios Kinik Nord-Heidberg, Hamburg, Germany

Introduction: In case of end stage renal disease due to primary hyperoxaluria type 1 (PH1) combined liver and kidney transplantation (CLKT) is the only curative treatment option. Some patients develop end-stage renal failure in the first months or years in life (infantile oxalosis). These children are at great risk of extra-renal complications such as cardiomyopathy, pathologic bone fractures and especially retinal oxalate deposits which lead to severe visual impairment. After correction of the metabolic defect using a liver graft and restored kidney function after renal transplantation systemic oxalate burden decreases. Thus, cardiomyopathy and pathological bone fractures seem to be improving. Whether retinal oxalosis, which leads to severe visual impairment, is improving over time, has yet to be determined. 

Methods: We performed a retrospective chart analysis and identified all pediatric patients with PH1, who underwent a CLKT at the Transplantation Centre Hamburg-Eppendorf between 1998 and 2018. Routine laboratory data, clinical data, need of renal replacement therapy (RRT) and organ survival has been collected from the medical records. Based upon patients age and cooperation, every patient underwent multiple detailed ocular examination including best corrected visual acuity (BCVA) testing, non-contact tonometry, slit-lamp biomicroscopy, and funduscopy. To assess the retinal morphology, fundus photography  (FP) spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) were performed.

Results: We analysed 13 patients with a median follow-up of 8.1 (range 2-15) years after CLKT. Three patients were on renal replacement therapy at the time of the study, whereas the median GFR of the remaining patients was 61ml/min/1.73m2(range 27-105). Fundus evaluation showed severe oxalate retinopathy (grade 2-4) in 8 children who reached end-stage renal disease (ESRD) in the first 2.5 years (infantile type) while only 1 of 5 patients with ESRD between 8 and 14 years of age suffered from remarkable retinal findings. Longitudinal ophthalmic assessment up to more than 10 years after CLKT revealed oxalate retinopathy without any improvement.  

Conclusion: Our data show, that despite early CLKT (around 10kg of body weight) in patients with infantile type of PH1, oxalate retinopathy and subsequent visual loss, does not show any improvement after CLKT. Thus, more early treatment options need to be discussed even in very young infants.

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