Severe metabolic disorders coexisting with Werner syndrome: a case report

Endocrine journal

article

Huan Li¹  Maoguang Yang¹  Hong Shen¹  Sisi Wang¹  Hanqing Cai¹ 

[1] Department of Endocrinology, The Second Hospital of Jilin University

关键词: Werner syndrome;    WRN gene;    Progeroid;    Diabetes mellitus;   

DOI  :  10.1507/endocrj.EJ20-0448

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

Werner syndrome, also called adult progeria, is a heritable autosomal recessive human disorder characterized by the premature onset of numerous age-related diseases including juvenile cataracts, dyslipidemia, diabetes mellitus (DM), osteoporosis, atherosclerosis, and cancer. Werner syndrome is a segmental progeroid syndrome whose presentation resembles accelerated aging. The most common causes of death for WS patients are atherosclerosis and cancer. A 40-year-old female presented with short stature, bird-like facies, canities with alopecia, scleroderma-like skin changes, and non-healing foot ulcers. The patient reported a history of delayed puberty, abortion, hypertriglyceridemia, and juvenile cataracts. A clinical diagnosis of WS was made and subsequently confirmed. We discovered two WRN gene mutations in the patient, Variant 1 was the most common WRN mutation, nonsense mutation (c.1105C>T:p.R369Ter) in exon 9, which caused a premature termination codon (PTC) at position 369. Variant 2 was a frameshift mutation (c.1134delA:p.E379KfsTer5) in exon 9, which caused a PTC at position 383 and has no published reports describing. Patients with WS can show a wide variety of clinical and biological manifestations in endocrine-metabolic systems (DM, thyroid dysfunction, and hyperlipidemia). Doctors must be cognizant of early manifestations of WS and treatment options.

【 授权许可】

Unknown