Renal Transplant in an Adult with Ellis Van Creveld Syndrome: A Case Report and Literature Review
Journal Title: Macedonian Journal of Medical Sciences (MJMS) - Year 2013, Vol 6, Issue 2
Abstract
Ellis van Creveld syndrome (EVC) is a rare chrondro-ectodermal dysplasia. Renal abnormalities are found in few EVC cases with agenesis, dysplasia, megaureter and nephrocalcinosis. Rarely EVC syndrome is complicated with kidney failure and only one child required renal transplantation. We report a patient who was diagnosed with EVC syndrome at birth. He developed hypertension at age 15 and gradually progressed to chronic kidney disease stage 5 requiring hemodialysis and renal transplantation.
Authors and Affiliations
Myftar Barbullushi| Service of Nephrology, UHC Mother Teresa, Tirana, Albania, Alma Idrizi| Service of Nephrology, UHC Mother Teresa, Tirana, Albania, Anila Laku| Service of Biomolecular Genetic, UHC Mother Teresa, Tirana, Albania, Eriola Likaj| Service of Nephrology, UHC Mother Teresa, Tirana, Albania, Marsida Kasa| Service of Nephrology, UHC Mother Teresa, Tirana, Albania, Nestor Thereska| Service of Nephrology, UHC Mother Teresa, Tirana, Albania
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- EP ID EP8928
- DOI 10.3889/MJMS.1857-5773.2013.0291
- Views 376
- Downloads 22
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