ArticleIndian journal of nephrology
Dorfman-Chanarin Syndrome with Renal Involvement: A Rare Case Report and Literature Review.
Article in Indian journal of nephrology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
- Navigating Surgical Challenges: Managing Juvenile Glaucoma in a Patient with Dorfman-Chanarin Syndrome.Biomedicines · 2024Article
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Authors and funding
13 authors at 3 institutions in 1 country.
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Abstract
Dorfman-Chanarin syndrome (DCS) is a rare autosomal recessive disease. It is a multisystemic disease in which renal involvement is uncommon. We report the case of a woman with nephrotic syndrome associated with DCS. A 36-year-old woman was referred to the nephrology department for edema with known history for DCS. On physical examination, she had ichthyosiform erythroderma with generalized scaly skinand ascites. The ophthalmologic examination revealed a cataract in the right eye. Abdominal ultrasound examination showed hepatomegaly and splenomegaly. Laboratory tests showed normal renal and liver function. The blood cell count showed pancytopenia. Immunologic exams showed the presence of anti-mitochondrial antibodies. Kidney biopsy showed mesangial proliferative glomerulonephritis with extensive lipid vacuoles in the tubular epithelial cells. Immunofluorescence study showed mesangial deposits of IgG, C3, kappa, and lambda. To the best of our knowledge, this is the first case of DCS with renal involvement reported in an adult.
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