Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year

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dc.contributor.authorOzalkak, Servan
dc.contributor.authorDemiral, Meliha
dc.contributor.authorUnal, Edip
dc.contributor.authorTas, Funda Feryal
dc.contributor.authorOnay, Huseyin
dc.contributor.authorDemirbilek, Huseyin
dc.contributor.authorOzbek, Mehmet Nuri
dc.date.accessioned2024-04-24T17:24:25Z
dc.date.available2024-04-24T17:24:25Z
dc.date.issued2023
dc.departmentDicle Üniversitesien_US
dc.description.abstractCongenital generalized lipodystrophy (CGL) is a rare, autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human leptin (metreleptin) has been suggested as an effective treatment option. We present successful treatment with metreleptin in a boy with CGL and results from the first year of follow-up. An eight-month-old boy presented with excessive hair growth and a muscular appearance. On examination he had hypertrichosis, decreased subcutaneous adipose tissue over the whole body and hepatomegaly. Laboratory investigations revealed hypertriglyceridemia, hyperinsulinemia, elevated liver transaminases and low leptin levels. Molecular genetic analysis detected a homozygous, c.465_468delGACT (p.T156Rfs*8) mutation in the BSCL2 gene. A diagnosis of CGL type 2 was considered. Despite dietary intervention, exercise, and treatment with additional omega-3 and metformin, the hypertriglyceridemia, hyperinsulinemia, and elevated liver transaminase levels worsened. Metreleptin treatment was started and after one year hyperphagia had disappeared, and there was dramatic improvement in levels of insulin, hemoglobin A1c, triglycerides and liver transaminases. Hepatosteatosis was lessened and hepatosplenomegaly was much improved. Metreleptin appears to be an effective treatment option in children with CGL that remarkably improved metabolic complications in the presented case. Initiation of metreleptin treatment in the early period may decrease mortality and morbidity, and increase the quality of life in children with CGL.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2022.2022-1-25
dc.identifier.endpage333en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue3en_US
dc.identifier.pmid35735786en_US
dc.identifier.scopus2-s2.0-85168788301en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage329en_US
dc.identifier.trdizinid1252376en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2022.2022-1-25
dc.identifier.urihttps://hdl.handle.net/11468/19663
dc.identifier.volume15en_US
dc.identifier.wosWOS:001056892200014en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherGalenos Publ Houseen_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCongenital Generalized Lipodystrophyen_US
dc.subjectBscl2 Geneen_US
dc.subjectMetreleptin Treatmenten_US
dc.titleMetreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-yearen_US
dc.typeArticleen_US

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