Rare case of nephrotic syndrome: Schimke syndrome
Author(s) -
Anna Kelly Krislane de Vasconcelos Pedrosa,
Luiz Fernando Oliveira Torres,
Ana Corina Brainer Amorim da Silva,
Adrianna Barros Leal Dantas,
Káthia Liliane da Cunha Ribeiro Zuntini,
Lia Cordeiro Bastos Aguiar
Publication year - 2016
Publication title -
brazilian journal of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.356
H-Index - 22
eISSN - 2175-8239
pISSN - 0101-2800
DOI - 10.5935/0101-2800.20160057
Subject(s) - medicine , nephrotic syndrome , focal segmental glomerulosclerosis , aplasia , pathology , glomerulonephritis , kidney
Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case.
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