ESPN 51th Annual Meeting

ESPN 2018


 
Follow-up of Kidney Transplantation due to Cystinosis: Case Series.
FATMA MUTLUBAS 1 CANER ALPARSLAN 1 EREN SOYALTIN 1 BELDE KASAP DEMIR 2 ÖNDER YAVAŞCAN 1 SEÇIL ARSLANSOYU ÇAMLAR 1 DEMET ALAYGUT 1

1- IZMIR TEPECIK TRAINING AND RESEARCH HOSPITAL DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- IZMIR KATIP ÇELEBI UNIVERSITY FACULTY OF MEDICINE DEPARTMENT OF PEDIATRIC NEPHROLOGY AND RHEUMATOLOGY
 
Introduction:

Cystinosis is a rare autosomal recessive lysosomal disease caused by defect in cystine aminoacid metabolism resulted with accumulation of cystine crystals in all tissues. There is a genotype-phenotype relation in CTNS gene. Cystinosis is classified as an infantile nephropathic, juvenile nephropathic and ocular non-nephrotic. Infantile nephropatic form is the most common clinical presentation and unfortunately is the worst clinical form.  Cysteamine treatment is targeted theraphy to excretion of cystine crystals from lysosomerelated with early initiation. End-stage renal disease (ESRD) is natural course of cystinosis due to tubulary injury. The patients with ESRD can underwent kidney  transplantation safely without recurrence in graft. Herein, 4 infantile cystinosis patients  were discussed with renal transplantation. 

Material and methods:

 There were 4 patients (2 girl, 2boy) with a mean diagnosis age 20.75 months (6-40). All of the patients had the renal Fanconi syndrome as presenting findings.  There was a similarity in ESRD developed age. All of the patients, underwent kidney transplantation approximately at 9 years old. Mean follow-up time after kidney transplantation was 84 months (12-144). Failure of thrive was the most amazing clinical feature in all.  One of the patient had developed chronic allograft nephropathy and commenced on chronic hemodialysis program while other grafts were intact.

Results:

 

There were no cystine crystals in protocol biopsies. Extrarenal involvements were detected in all cases with ocular and tyroid glands. There was non-adherence to cysteamine treatment in two patients. This situation was confirmed by high levels of leucocyte cystine levels.

Conclusions:

 

In conclusion, cystinosis is a systemic disease, thus ESRD is a natural course of the disease. We advocate that the importance of early diagnosis and life long adherent cysteamine treament is critical in  the patients. In addition, patients develop ESRD could be underwent kidney transplantation which is a treatment of choice without recurrence risk.