ESPN 51th Annual Meeting

ESPN 2018


 
Renal disease in Cockayne Syndrome
STERN-DELFILS AMéLIE 1 LAUGEL VINCENT 1 ZALOSZYC ARIANE 1

1- HOPITAUX UNIVERSITAIRES DE STRASBOURG
 
Introduction:

Cockayne Syndrome (CS) is a rare autosomal recessive multi-systemic disorder, characterized by developmental delay, microcephaly, severe growth failure, sensorial impairment. Renal complications have been reported but remain underinvestigated. The objective of this study was to perform a review of renal disease in a cohort of CS patients.

Material and methods:

We retrospectively collected relevant clinical, biochemical and genetic data from a cohort of 136 genetically confirmed CS patients. Blood pressure (BP), proteinuria, albuminemia, creatinine clearance, renal ultrasounds and renal biopsy result were analysed.

Results:

Thirty-two patients had had a renal investigation. We found that 69% of investigated patients had a renal disorder and/or an elevated BP. Fifteen out of 21 patients (71% of investigated patients) had an increased BP, 10 out of 16 patients (62% of investigated patients) presented with proteinuria and 4 of them had a nephrotic syndrome. Thirteen patients out of 29 had a decreased GFR (45%). Eighteen out of 25 patients (72%) had a hyperuricemia. No correlation with the genetic background or clinical types of CS was found, except for the renal clearance.

Conclusions:

Renal disease, increased blood pressure and hyperuricemia were highly prevalent in our study. We believe that CS patients should benefit from a nephrological follow-up and that anti-uric acid drug and ACE inhibitor should be discussed in these patients.