HÜLYA YARDIMCI, FERAY ÇAĞIRAN YILMAZ, Furkan YOLCU, Nüket ÜNSAL, Onur AKIN

Prader Willi Sendrom’lu Çocukta Tıbbi Beslenme Tedavisinin Etkinliğinin Değerlendirilmesi: Bir Olgu Sunumu

Prader Willi Sendromu (PWS), vücudun birçok bölümünü etkileyen karmaşık genetik bir hastalıktır. Bebeklik döneminde hipotoni, beslenme güçlüğü, büyüme ve gelişme geriliği, çocukluk döneminde ise hiperfaji ve obeziteyle karakterize bir hastalıktır. Görülme sıklığı dünya genelinde 10.000-30.000 doğumda birdir. Hastalığın uzun dönemdeki obezitenin neden olduğu komplikasyon (diyabet, kardiyovasküler hastalık gibi) risklerini azaltmak için, ömür boyu devam edecek tıbbi beslenme tedavisi gerekmektedir. Tıbbi beslenme tedavisi hiperfaji kaynaklı obezitenin önlenmesine yönelik olup bu dönemde çocukların büyüme ve gelişmelerinin izlemi oldukça önemlidir. Bu olgu sunumunda, PWS olan bir hastanın büyüme-gelişmesinin izlenmesinde hastalığa özgü eğrilerin kullanılmasının önemi ve tıbbi beslenme tedavisinin etkinliğinin değerlendirilmesi tartışılmıştır

A Case Report: Evaluation of the Effectiveness of Nutritional Therapy in Children with Prader Willi Syndrome

Prader Willi Syndrome (PWS) is a complex genetic illness that affects many parts of the body. In infancy, this illness is characterized by weak muscle tone (hypotonia), feeding difficulties, poor and delayed physical development. During the childhood period children develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Prevalence of PWS is estimated to be 1 in 10.000 to 30.000 children worldwide. Continuous medical nutrition treatment is necessary to prevent PWS’s long-term complications caused by obesity (such as diabetes cardiovascular disease). Medical nutrition therapy is a period that aims preventing hyperphagiainduced-obesity and requires importance and careful follow-up of children’s growth and development. In this case report, the importance of using PWS-specific curves while following up the child’s growth and development progress and efficacy of medical nutrition therapy are discussed.

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