{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T00:42:16Z","timestamp":1712191336533},"reference-count":14,"publisher":"Scientific Scholar","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Dorfman\u2013Chanarin 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.<\/jats:p>","DOI":"10.4103\/ijn.ijn_203_22","type":"journal-article","created":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T09:06:52Z","timestamp":1699434412000},"page":"472-475","source":"Crossref","is-referenced-by-count":0,"title":["Dorfman\u2013Chanarin Syndrome with Renal Involvement: A Rare Case Report and Literature Review"],"prefix":"10.25259","volume":"33","author":[{"given":"Ikram","family":"Agrebi","sequence":"first","affiliation":[{"name":"Department of Nephrology, University of Sfax, School of Medicine, Hedi Chaker Hospital, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Achraf","family":"Jaziri","sequence":"additional","affiliation":[{"name":"Department of Nephrology, University of Sfax, School of Medicine, Hedi Chaker Hospital, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houda","family":"Kanoun","sequence":"additional","affiliation":[{"name":"Laboratory of Research of Renal Pathology, University of Sfax, LR19ES11, Sfax, Tunisia"},{"name":"Department of Genetic, Hedi Chaker Hospital, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najla","family":"Dammak","sequence":"additional","affiliation":[{"name":"Department of Nephrology, University of Sfax, School of Medicine, Hedi Chaker Hospital, Sfax, Tunisia"},{"name":"Laboratory of Research of Renal Pathology, University of Sfax, LR19ES11, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mouna","family":"Boudabous","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hedi Chaker Hospital, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salma","family":"Toumi","sequence":"additional","affiliation":[{"name":"Department of Nephrology, University of Sfax, School of Medicine, Hedi Chaker Hospital, Sfax, Tunisia"},{"name":"Laboratory of Research of Renal Pathology, University of Sfax, LR19ES11, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soumaya","family":"Yaich","sequence":"additional","affiliation":[{"name":"Department of Nephrology, University of Sfax, School of Medicine, Hedi Chaker Hospital, Sfax, Tunisia"},{"name":"Laboratory of Research of Renal Pathology, University of Sfax, LR19ES11, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nabil","family":"Tahri","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hedi Chaker Hospital, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arwa","family":"Kammoun","sequence":"additional","affiliation":[{"name":"Department of Immunology, Hedi Chaker Hospital, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hafedh","family":"Makni","sequence":"additional","affiliation":[{"name":"Department of Immunology, Hedi Chaker Hospital, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khawla","family":"Kammoun","sequence":"additional","affiliation":[{"name":"Department of Nephrology, University of Sfax, School of Medicine, Hedi Chaker Hospital, Sfax, Tunisia"},{"name":"Laboratory of Research of Renal Pathology, University of Sfax, LR19ES11, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tahya","family":"Boudawara","sequence":"additional","affiliation":[{"name":"Laboratory of Anatomopathology, Habib Bourguiba Hospital, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed Ben","family":"Hmida","sequence":"additional","affiliation":[{"name":"Department of Nephrology, University of Sfax, School of Medicine, Hedi Chaker Hospital, Sfax, Tunisia"},{"name":"Laboratory of Research of Renal Pathology, University of Sfax, LR19ES11, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2023,2,21]]},"reference":[{"key":"R1-20231108","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1046\/j.1523-1747.2003.12520.x","article-title":"Truncation of CGI-58 Protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome","volume":"121","author":"Akiyama","year":"2003","journal-title":"J Invest Dermatol"},{"key":"R2-20231108","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1111\/j.0954-6820.1953.tb07038.x","article-title":"The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB)","volume":"145","author":"Jordans","year":"1953","journal-title":"Acta Med 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