ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
Forms

Abstracting & Indexing
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 <i>BSCL2</i> Gene: Results From the First-year [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2023; 15(3): 329-333 | 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: Results From the First-year

Şervan Özalkak1, Meliha Demiral2, Edip Ünal3, Funda Feryal Taş1, Hüseyin Onay4, Hüseyin Demirbilek5, Mehmet Nuri Ozbek1
1Gazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey
2Balıkesir City Hospital, Clinic of Pediatric Endocrinology, Balıkesir, Turkey
3Dicle University Faculty of Medicine, Department of Paediatric Endocrinology, Diyarbakır, Turkey
4Multigen Genetic Diseases Diagnosis Center, Department of Medical Genetics, İzmir 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 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.

Keywords: Congenital generalized lipodystrophy, BSCL2 gene, metreleptin treatment

Şervan Özalkak, Meliha Demiral, Edip Ünal, Funda Feryal Taş, Hüseyin Onay, Hüseyin Demirbilek, Mehmet Nuri Ozbek. 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. J Clin Res Pediatr Endocrinol. 2023; 15(3): 329-333

Corresponding Author: Şervan Özalkak, Türkiye
Manuscript Language: English
LookUs & Online Makale