Reyhan GÜMÜŞTEKİN, Nafiye URGANCI, Banu YILMAZ

Kronik ishalin nadir bir nedeni; geç tanılı abetalipoproteinemi

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

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.

Keywords:

Chronic diarrhea, abetalipoproteinemia, low LDL, apo B,

PDF

___

1. Zamel R, Khan R, Pollex RL, Hegele RA. Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis. 2008;8:19.
2. Pons V, Rolland C, Nauze M, et al. A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). Human Mutation 2011;32:751-9.
3. Isa HM, Mohamed AM. Abetalipoproteinemia: three case reports, a novel microsomal triglyceride transfer protein gene mutation and a literature review. J Clin Case Rep 2016;6:9
4. Uslu N, Gurakan F, Yüce A, Demir H, Tarugi P. Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation. Turk J Pediat 2010;52:73-7.
5. Rampoldi L, Danek A, Monaco AP. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med 2002;80:475-91.
6. Erdur CB, Güzin Y. Çocuklarda hipolipidemiler. İzmir Dr. Behçet Uz Çocuk Hast. Dergisi 2016;61:1-8.
7. Seckeler MD, Linden J. Maternal abetalipoproteinemia resulting in multiple fetal anomalies. Neonatology 2008;94:310-3.
8. Tarugi P, Averna M, Di Leo E, et al. Molecular diagnosis of hypobetalipoproteinemia: an ENID review. Atherosclerosis 2007;195:19-27.
9. Rashtian P, Sani MN, Jalilian R. A male infant with abetalipoproteinemia: A case report from Iran. Middle East J Dig Dis 2015;7:181-4.
10. Najah M, Youssef SM, Yahia HM, et al. Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene. Diag Pathol 2013;8: 54.
11. Ozsoylu S, Kocak N, Gürakar F, Renda N. Abetalipoproteinemia: a case report. Turk J Pediatr 1985; 27:231-6.
12. Selimoğlu MA, Eşrefoğlu M, Gündoğdu C, Kılıç A. Abetalipoproteinemia: a case report. Turk J Pediatr 2001;43:243-5.