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End Stage Renal Disease, Differential Diagnosis, A Rare Genetic Disorder: Bardet–Biedl Syndrome: Case Report and Review

By B. Sowjanya, U. Sreenivasulu, J. N. Naidu and N. Sivaranjani

Abstract

End stage renal disease (ESRD) represents a clinical condition in which there is an irreversible loss of endogenous renal function. Both structural and functional abnormalities of the kidney are associated with increased morbidity, mortality. Bardet–Biedel syndrome (BBS) is one of the rare genetic disorders with prevalence of 1 in 1, 40,000–1 in 1,60,000 worldwide. ESRD in BBS patients is the final stage of the disease, increasing mortality in youth

Topics: Case Report
Publisher: Springer-Verlag
OAI identifier: oai:pubmedcentral.nih.gov:3107414
Provided by: PubMed Central
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