Kronik ishalin nadir bir nedeni; geç tanılı abetalipoproteinemi

Yıl 2022, Cilt: 21 Sayı: 1, 43 - 47, 26.04.2022

Reyhan Gümüştekin Nafiye Urgancı Banu Yılmaz

https://doi.org/10.17941/agd.1093483

Öz

Abetalipoproteinemi otozomal resesif geçişli, hayatın ilk yıllarında büyüme geriliği ve ishal ile seyreden lipoprotein metabolizma bozukluğuna bağlı bir hastalıktır.
Büyüme geriliği ve aralıklı ishal yakınması ile 13 yaşında, geç tanı alan abetalipoproteinemili olgu nadir görülmesi nedeniyle sunulmuştur.

Anahtar Kelimeler

Kronik ishal, abetalipoproteinemi, düşük LDL, apo B

A rare reason for chronic diarrhea; late diagnosed abetalipoproteinemia

Öz

Abetalipoproteinemia is an autosomal recessive disorder characterized by growth retardation and diarrhea due to lipoprotein metabolism disorser in the first years of life.
A case with late diagnosis of abetalipoproteinemia at the age of 13 with complaints of growth retardation and intermittent diarrhea was presented due to its rare occurrence.

Anahtar Kelimeler

Chronic diarrhea, abetalipoproteinemia, low LDL, apo B

Kaynakça

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