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

A Case Report: Werner’s Syndrome

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

Kaynakça

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