Erken Dönemde Tanı Alan Bir Fanconi-Bickel Sendromu Olgusu ve SLC2A2 Geninde Yeni Bir Mutasyon

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dc.authorid0000-0002-7159-4008
dc.authorid0000-0003-1964-6306
dc.authorscopusid57201741902
dc.authorscopusid8283704400
dc.authorscopusid56451085500
dc.authorscopusid16041117700
dc.authorscopusid55317364400
dc.authorwosidZübarioğlu, Tanyel/AAG-3957-2019
dc.authorwosidZubarioglu, Tanyel/ABA-9917-2020
dc.authorwosidYESIL, GOZDE/ABE-1615-2020
dc.authorwosidCansever, Mehmet Serif/AAU-8758-2020
dc.contributor.authorÇelikboya, Ezgi
dc.contributor.authorCansever, Mehmet Şerif
dc.contributor.authorZubarioglu, Tanyel
dc.contributor.authorYeşil, Gozde
dc.contributor.authorAkıncı, Nurver
dc.date.accessioned2022-05-11T14:47:19Z
dc.date.available2022-05-11T14:47:19Z
dc.date.issued2019
dc.departmentMeslek Yüksekokulları, Sağlık Hizmetleri Meslek Yüksekokulu, Tıbbi Hizmetler ve Teknikler Bölümü
dc.description.abstractFanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age. Here, we present a case of Fanconi-Bickel syndrome in a patient who was diagnosed at 47 days of age with the findings of glycosuria, hyperglycemia and an elevated level of alkaline phosphatase (ALP). The diagnosis was confirmed by identification of a new mutation in SLC2A2 gene and metabolic control was provided by a galactose-restricted high protein diet. A 27-day-old female patient was admitted with glycosuria. It was observed that she did not gain enough weight, had fat cheeks and hepatomegaly. Biochemical investigations revealed transaminase and ALP elevation. Fasting plasma glucose level was normal whereas postprandial glucose level was 198 mg/dL Urinalysis revealed 1+ protein and 3+ glucose. In follow-up, hyperglycemia started to be more evident, the ALP level decreased, compensated metabolic acidosis developed and the diagnosis of Fanconi-Bickel syndrome was assumed at 47 days of age. Under nutrition and oral replacement therapies good metabolic control and weight gain could be achieved. Postprandial hyperglycemia and glycosuria are early diagnostic clues for Fanconi-Bickel syndrome. Awareness of early findings and initiation of galactose-restricted high protein diet may provide metabolic control and prevent late complications.
dc.identifier.doi10.4274/haseki.galenos.2018.4504
dc.identifier.endpage331
dc.identifier.issn1302-0072
dc.identifier.issn2147-2688
dc.identifier.issue3en_US
dc.identifier.scopus2-s2.0-85073407524
dc.identifier.scopusqualityQ4
dc.identifier.startpage328
dc.identifier.urihttps://doi.org/10.4274/haseki.galenos.2018.4504
dc.identifier.urihttps://hdl.handle.net/20.500.11776/10475
dc.identifier.volume57
dc.identifier.wosWOS:000487287800020
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.institutionauthorCansever, Mehmet Şerif
dc.language.isotr
dc.publisherGalenos Yayincilik
dc.relation.ispartofHaseki Tip Bulteni-Medical Bulletin of Haseki
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectFanconi-Bickel syndrome
dc.subjectSCL2A2 gene
dc.subjecthyperglycemia
dc.subjectglycosuria
dc.titleErken Dönemde Tanı Alan Bir Fanconi-Bickel Sendromu Olgusu ve SLC2A2 Geninde Yeni Bir Mutasyon
dc.title.alternativeEarly Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation in SLC2A2 Gene
dc.typeArticle

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