Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review
| Autor: | Lin Sun, Weiying Guo, You Lv, Zi Yan, Guangyu He, Xiaokun Gang, Guixia Wang |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_specialty
Endocrinology Diabetes and Metabolism 030209 endocrinology & metabolism Short stature LMNA 03 medical and health sciences Young Adult 0302 clinical medicine Endocrinology Insulin resistance Diabetes mellitus Diabetes Mellitus Medicine Missense mutation Humans Atypical Werner syndrome Werner syndrome Progeria business.industry Hypogonadism nutritional and metabolic diseases medicine.disease Lamin Type A Dermatology 030220 oncology & carcinogenesis Female Werner Syndrome medicine.symptom business |
| Zdroj: | Endocrine journal. 66(11) |
| ISSN: | 1348-4540 |
| Popis: | Werner syndrome (WS) is a rare, adult-onset progeroid syndrome. Classic WS is caused by WRN mutation and partial atypical WS (AWS) is caused by LMNA mutation. A 19-year-old female patient with irregular menstruation and hyperglycemia was admitted. Physical examination revealed characteristic faces of progeria, graying and thinning of the hair scalp, thinner and atrophic skin over the hands and feet, as well as lipoatrophy of the extremities, undeveloped breasts at Tanner stage 3, and short stature. The patient also suffered from severe insulin-resistant diabetes mellitus, hyperlipidemia, fatty liver, and polycystic ovarian morphology. Possible WS was considered and both WRN and LMNA genes were analyzed. A novel missense mutation p.L140Q (c.419T>A) in the LMNA gene was identified and confirmed the diagnosis of AWS. Her father was a carrier of the same mutation. We carried out therapy for lowering blood glucose and lipid and improving insulin resistance, et al. The fasting glucose, postprandial glucose and triglyceride level was improved after treatment for 9 days. Literature review of AWS was performed to identify characteristics of the disease. Diabetes mellitus is one of the clinical manifestations of WS and attention must give to the differential diagnosis. Gene analysis is critical in the diagnosis of WS. According to the literature, classic and atypical WS differ in incidence, pathogenic gene, and clinical manifestations. Characteristic dermatological pathology may be significantly more important for the initial identification of AWS. Early detection, appropriate treatments, and regular follow-up may improve prognosis and survival of WS patients. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|