KaydedilenlerDerginizi ekleyin

Dergiler / Göztepe Tıp Dergisi / 2006 / Cilt: 21 - Sayı: 4

Ailesel hiperkolesterolemi

Familial hypercholesterolemia

Özlem SANGÜN
Cenk AKÇALI
Faruk İNCECİK
İsmail GÜZELMANSUR
Sayfa
210–212
Yayın Tarihi
2022-10-17
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

We therefore presented two families who have this rarely seen metabolic disorder of lipid metabolism which leads to coronary atherosclerosis, myocardial infarction and death at early ages.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Familial hypercholesterolemia is a hereditary disease characterized with the increase of LDL- cholesterol level in plasma as a result of mutational defect of LDL receptor gene.
📊
Temel Bulgular & Veri:The form which is homozygous has an incidance of 0.2 % in the population.
💡
Sonuç & Katkı:We therefore presented two families who have this rarely seen metabolic disorder of lipid metabolism which leads to coronary atherosclerosis, myocardial infarction and death at early ages.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

Familial hypercholesterolemia is a hereditary disease characterized with the increase of LDL- cholesterol level in plasma as a result of mutational defect of LDL receptor gene. The disease presents in two forms as homozygous and heterozygous. The form which is homozygous has an incidance of 0.2 % in the population. Because the patients have high cholesterol, especially LDL- cholesterol levels which are the major factor that contribute to atherosclerosis, early diagnosis and treatment is very important. We therefore presented two families who have this rarely seen metabolic disorder of lipid metabolism which leads to coronary atherosclerosis, myocardial infarction and death at early ages.

🔖

Bu Makaleye Atıf Yap

SANGÜN, Ö., AKÇALI, C., İNCECİK, F., GÜZELMANSUR, İ. (2022). Ailesel hiperkolesterolemi. Göztepe Tıp Dergisi, Cilt: 21 - Sayı: 4, 210–212. https://ajindex.com/articles/526359

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (16)

  1. Fredrickson DS, Levy RI, Lees RS: Fat transport in lipoproteins an integrated approach to mechanisms and disorders. N Engl J Med 276:34-44,1967
  2. Goldstein JL, Hobbs HH, Brown MS: Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, ed. The Metabolic and Molecular Basis of Inherited Diseases, 7 th ed. New-York: McGraw-Hill, 1981-2030, 1987
  3. Sprecher DL, Hoeg JM, Scaefer EJ, et al: The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia. Metabolism 34:294-299,1985
  4. Brown MS, Herz J, Goldstein JL: LDL-receptor structure. Calcium cages, acid baths and recycling receptors. Nature 388:629-630,1997
  5. Heath KE, Gahan M, Whittall RA, et al: Low-density lipoprotein receptor gen (LDLR) world-wide website in familial hypercholesterolemia: update, new features and mutation analysis. Atherosclerosis 154:243-246,2001
  6. Goldstein JL, Brown MS: Regulation of the mevalonate pathway. Nature 343:425-430,1997
  7. Çam H, Aydın A, Haktan M, ark: Ailesel hiperkolesterolemi. İstanbul Çocuk Kliniği Dergisi 27:46-50,1992
  8. Atalay S, Ege B, İmamoğlu A, ark: Ailevi homozigot hiperkolesterolemi. T Klin Pediatri 2:201-204,1993
  9. Seth RK, Gulati S, Seth S, et al: Familial hypercholesterolemia. Indian J Pediatr 71:97-99,2004
  10. Black MM, Gawkrodger DJ, Seymour CA, et al: Metabolic and nutritional disorders. In: Champion RH, Burton JL, Bums DA. eds. Text Book of Dermatology, 6th ed. Oxford: Blackwell Science Ltd, 2068,1998
  11. Rajamannan NM, Edwars WD, Splsberg TC: Hypercholesterolemic aortic valve disease. N Engl J Med 349:717-718,2003
  12. Goldstein JL, Brown MS: LDL-reseptor defect in familial ypercholesterolemia.Med Clin N Am 66:335-338,1982
  13. Kannel WB,Castelli WP, Gordon T: Cholesterol in the prediction of atherosclerotic disease: new perspectives based on the Framingham Study. Ann Intern Med 90:85-91,1979
  14. Holme I: Relation of coronary heart disease incidence and total mortality to plasma cholesterol reduction in randomised trials: Use of meta-analysis. Br Heart J 69:42-47,1993
  15. Allen JM, Thompson GR, Myant NB, et al: Cardiovascular complications of homozygous familial hypercholesterolemia. Br Heart J 44:361-368,1980
  16. Gagne C, Moorjani S, Brun D, et al: Heterozygous familial hypercholesterolemia.Relationship between plasma lipids, lipoproteins, clinical manifestations and ischemic heart disease in men and women. Atherosclerosis 34:13-24,1979