Revesz syndrome revisited.

Michael KarremannEva Neumaier-ProbstFrank SchlichtenbredeFabian BeierTim H BrümmendorfFriedrich W CremerPeter BaderMatthias Dürken

Published in: Orphanet journal of rare diseases (2020)

RS is a severe variant of DKC with early bone marrow failure and retinopathy in all patients. Survival is dismal, but stem cell transplantation may be performed successfully and might improve prognosis in the future.

Keyphrases

stem cell transplantation
bone marrow
end stage renal disease
high dose
ejection fraction
newly diagnosed
chronic kidney disease
mesenchymal stem cells
peritoneal dialysis
prognostic factors
case report
early onset
current status
low dose