Severe metabolic disorders coexisting with Werner syndrome: a case report.
Endocr J
; 68(3): 261-267, 2021 Mar 28.
Article
em En
| MEDLINE
| ID: mdl-33087645
ABSTRACT
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>Tp.R369Ter) in exon 9, which caused a premature termination codon (PTC) at position 369. Variant 2 was a frameshift mutation (c.1134delAp.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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Werner
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Doenças Ósseas Metabólicas
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Hipertrigliceridemia
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Diabetes Mellitus Tipo 2
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Fígado Gorduroso
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Hipotireoidismo
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article