A Case Report: Werner’s Syndrome

Yıl 2024, Cilt: 33 Sayı: 5, 391 - 396, 13.12.2024

Aysen Akhundova , Sezin Canbek , Duygu Erdil , Cem Leblebici , Ayşe Esra Koku Aksu

https://doi.org/10.17942/sted.1478196

Öz

Werner syndrome (WS) is a rare genetic disease that exhibits clinical features suggestive of accelerated aging. It was first described by German medical student Otto Werner in 1904. WS, a rare and autosomal recessive disorder of premature aging, is characterized by the early onset of aging-associated diseases such as height loss, alopecia, bilateral cataracts, skin ulcers, diabetes, osteoporosis, arteriosclerosis, and chromosomal instability.
In this article, a 45-year-old female case with symptoms of premature aging, growth and developmental delay, and diagnosed with Werner syndrome is discussed.

Anahtar Kelimeler

WRN, homozygous, premature aging

Proje Numarası

yok

Olgu Sunumu: Werner Sendromu

Öz

Werner sendromu (WS), hızlandırılmış yaşlanmayı düşündüren klinik özellikler sergileyen nadir bir genetik hastalıktır. İlk olarak 1904'te Alman tıp öğrencisi Otto Werner tarafından tanımlanmıştır. Nadir ve otozomal resesif bir erken yaşlanma bozukluğu olan WS, boy kısalması, alopesi, iki taraflı katarakt, cilt ülserleri, diyabet, osteoporoz, arterioskleroz ve kromozomal instabilite gibi yaşlanmayla ilişkili hastalıkların erken başlangıcıyla karakterizedir.
Bu makalede, erken yaşlanma, büyüme gelişme geriliği belirtileri taşıyan ve Werner Sendromu tanısı konulan 45 yaşındaki kadın olgu ele alınmıştır.

Anahtar Kelimeler

WRN, homozigot, erken yaşlanma

Etik Beyan

yok

Destekleyen Kurum

yok

Proje Numarası

yok

Kaynakça

• Oshima J, Martin GM, Hisama FM. In: Werner Syndrome. Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews; Seattle (WA); 2014.
• Takemoto M, Mori S, Kuzuya M, Yoshimoto S, Shimamoto A, Igarashi M, Tanaka Y, Miki T, Yokote K. Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey. Geriatr Gerontol Int. 2013;13:475–81.
• Huang S, Lee L, Hanson NB, Lenaerts C, Hoehn H, Poot M, & et al. The spectrum of WRN mutations in Werner syndrome patients. Human mutation. 2006;27(6):558-67.
• Goto M. Hierarchical deterioration of body systems in Werner’s syndrome: Implications for normal ageing. Mechanisms of Ageing and Development. 1997;98(3):239-54.
• Epstein CJ, Martin GM, Schultz AL, Motulsky AG. Werner’s syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine (Baltimore) 1966;45:177–221.
• Lauper JM, Krause A, Vaughan TL, Monnat RJ. Spectrum and risk of neoplasia in Werner syndrome: A systematic review. PLoS One. 2013;8:e59709.
• Martin GM, Oshima J, Gray MD, Poot M. What geriatricians should know about the Werner syndrome. J Am Geriatr Soc. 1999;47:1136–44.
• Muftuoglu M, Oshima J, von Kobbe C, Cheng W, Leistritz DF, Bohr VA. The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis. Hum Genet 2008;124:369-377.
• Oshima J, Sidorova JM, Monnat RJ Jr. Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions. Ageing Res Rev. 2017;33:105–14.