Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.

Autor: Akinci G; Department of Pediatric Neurology, University of Health Sciences, Izmir Faculty of Medicine, Behcet Uz Children's Hospital, Izmir, Turkey., Alyaarubi S; Oman Medical Specialty Board, Muscat, Oman., Patni N; Division of Pediatric Endocrinology, Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas, USA., Alhashmi N; Clinical and Biochemical Genetics Department, Child Health Department, Royal Hospital, Muscat, Oman., Al-Shidhani A; Oman Medical Specialty Board, Muscat, Oman., Prodam F; Division of Pediatrics, Department of Health Sciences, University of Piemonte Orientale, Novara, Italy., Gagne N; Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, Canada., Babalola F; Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada., Al Senani A; National Diabetes and Endocrine Center, Royal Hospital, Muscat, Oman., Muniraj K; Samatvam Diabetes Endocrinology and Medical Center, Bangalore, India., Elsayed SM; Medical Genetics Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Beghini M; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria., Saydam BO; Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey., Allawati M; Child Health Department, Royal Hospital, Muscat, Oman., Vaishnav MS; Samatvam Diabetes Endocrinology and Medical Center, Bangalore, India.; Indian Institute of Science, Center for Nano Science and Engineering, Bangalore, India., Can E; Division of Pediatric Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey., Simsir IY; Division of Endocrinology, Ege University, Izmir, Turkey., Sorkina E; Endocrinology Research Centre, Moscow, Russia.; Clinical Research Facility, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Dursun F; Department of Pediatric Endocrinology, Umraniye Training and Research Hospital, Istanbul, Turkey., Kamrath C; Centre of Child and Adolescent Medicine, Department of General Pediatrics and Neonatology, Justus-Liebig-University Giessen, Giessen, Germany., Cavdar U; Division of Endocrinology, Katip Celebi University, Izmir, Turkey., Chakraborty PP; Department of Endocrinology and Metabolism, Medical College Hospital, Kolkata, India., Dogan OA; Department of Pediatric Genetics, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey., Al Hosin A; National Genetic Center, Muscat, Oman., Al Maimani A; National Genetic Center, Muscat, Oman., Comunoglu N; Department of Pathology, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey., Hamed A; Child Health Department, Royal Hospital, Muscat, Oman., Huseinbegovic T; Division of Endocrinology, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas, USA., Scherer T; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria., Curtis J; Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada., Brown RJ; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Topaloglu H; Department of Pediatric Neurology, Yeditepe University, Istanbul, Turkey., Simha V; Division of Endocrinology, Mayo Clinic, Rochester, Minnesota, USA., Wabitsch M; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University Center Ulm, Ulm, Germany., Tuysuz B; Department of Pediatric Genetics, Istanbul University, Cerrahpasa Faculty of Medicine, Istanbul, Turkey., Oral EA; Division of Metabolism, Endocrinology and Diabetes (MEND), Department of Internal Medicine, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA., Akinci B; DEPARK, Dokuz Eylul University, Izmir, Turkey.; Izmir Biomedicine and Genome Center, Izmir, Turkey., Garg A; Section of Nutrition and Metabolic Diseases, Division of Endocrinology, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63533. Date of Electronic Publication: 2024 Jan 17.
DOI: 10.1002/ajmg.a.63533
Abstrakt: Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44). Myopathy with elevated serum creatine kinase levels (346-3325 IU/L) affected all of them (38/38). 39% had scoliosis (10/26) and 57% had atlantoaxial instability (8/14). Cardiac arrhythmias were detected in 57% (20/35) and 46% had ventricular tachycardia (16/35). Congenital pyloric stenosis was diagnosed in 39% (18/46), 9 had esophageal dysmotility and 19 had intestinal dysmotility. Four patients suffered from intestinal perforations. Seven patients died at mean age of 17 years (range: 2 months to 39 years). The cause of death in four patients was cardiac arrhythmia and sudden death, while others died of prematurity, gastrointestinal perforation, and infected foot ulcers leading to sepsis. Our study highlights high prevalence of myopathy, metabolic abnormalities, cardiac, and gastrointestinal problems in patients with CGL4. CGL4 patients are at high risk of early death mainly caused by cardiac arrhythmias.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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