ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 14 Issue: 2 Year: 2022
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Turkish Society for Pediatric Endocrinology and Diabetes
Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene; The First-year Results [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-76376 | DOI: 10.4274/jcrpe.galenos.2022.2022-1-25

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

Şervan Özalkak1, Meliha Demiral2, Edip Ünal3, Funda Feryal Taş1, Hüseyin Onay4, Hüseyin Demirbilek5, Mehmet Nuri Özbek1
1Gazi Yasargil Training and Research Hospital, Pediatric Endocrinology, Diyarbakır, Turkey
2Department of Pediatric Endocrinology, Balıkesir City Hospital, Balıkesir, Turkey
3Dicle University Faculty of Medicine, Department of Paediatric Endocrinology, Diyarbakır, Turkey
4Department of Medical Genetics, Multigen Genetic Diseases Diagnosis Center, Izmir Turkey
5Hacettepe University Faculty of Medicine, Department of Paediatric Endocrinology, Ankara, Turkey

Congenital 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, herein, present the successful use of metreleptin in a case with CGL and its 1-year follow-up. An eight-month-old boy presented with complaints of hair growth and muscular appearance: He had, hypertrichosis, decreased subcutaneous adipose tissue in the whole body and hepatomegaly. In the laboratory investigations hypertriglyceridemia, hyperinsulinemia, elevated liver transaminases and low leptin levels were detected. In molecular genetic analysis homozygous c.465_468delGACT (p.T156Rfs*8) mutation was detected in the BSCL2 gene. A diagnosis of CGL type 2 was considered. Despite the dietary intervention, exercises, omega-3 and metformin treatment, the hypertriglyceridemia, hyperinsulinemia, and elevated liver transaminase levels worsened. After one year of metreleptin treatment, hyperphagia disappeared, insulin, HbA1c, triglyceride and liver transaminase levels improved dramatically. Hepatosteatosis reduced, The size of the liver and the spleen remarkably decreased.
Metreleptin is an effective treatment option that prevents the development of metabolic complications of CGL in children. The initiation of metreleptin treatment in the early period would decrease mortality and morbidity, and increase the quality of life in children with CGL.

Keywords: Congenital generalized lipodystrophy, BSCL2 gene, Metreleptin treatment



Corresponding Author: Şervan Özalkak, Türkiye
Manuscript Language: English
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