Öz
Gilbert"s sendromu konjuge olmayan hiperbilirubinemi ile karekterize bir hastalıktır. 5 yaşında erkek çocuğu hafif sarılık ile hastanemize getirildi. Hastanın karaciğer enzimleri ve kreatin fosfokinaz yüksekliği ile beraber ısrarcı unkonjuge hiperbilirubinemisi vardı. Normal hemoglobin ve retikülosit değerleri ile hemoliz dışlandı ve Gilbert"s sendromu tanısı konuldu. Kreatin kinaz değeri 15600 U/l idi ve distrofin geninde delesyon mevcuttu. Sonuç olarak hastaya Gilbert"s sendromu ve Duchenne Müsküler Distrofi tanısı kondu. Bilgilerimize göre, Duchenne Müsküler Distrofi ve Gilbert"s sendromu birlikteliği literatürdeki ilk olgudur.
Anahtar Kelimeler
Kaynakça
- Emery AEH. Population frequencies of inherited neuromuscular diseases. A world survey. Neuromuscul Disord. 1991; 1:19-29.
- Owens D, Evans J. Population studies on Gilbert's syndrome. J Med Genet. 1975; 12:152-6.
- İncecik et al. Cukurova Medical Journal Powell LW, Billing BH, Williams HS. An assessment of red cell survival in idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome) by the use of radioactive di-isopropylfluorophosphate and chromium. Ann Med. 1967; 16:221-6.
- Ghany M, Hoofnagle JH. Approach to the patient with liver disease. In: Kasper DL, Braunwald E, Fauci AS, Hausern SL, Longo DL, Jameson JL, eds. Harrison’s Principles of Internal Medicine (16th ed). New York: McGraw-Hill. 2005:1819.
- Sherlock S, Dooley J. Jaundice. In: Diseases of the liver and biliary system, 11th Ed: 214-217. London, Blackwell. 2002.
- Borker A, Udall J, Warrier R. Coexisting Gilbert's syndrome and sickle cell disease. South Med J. 2002; 95:939-40.
- Yazışma Adresi / Address for Correspondence: Dr. Faruk İncecik Çukurova University Medical Faculty Department of Pediatric Neurology 01330 Balcalı-ADANA e-mail: fincecik@yahoo.com geliş tarihi/received :28.02.2013 kabul tarihi/accepted:18.03.2013
Öz
Gilbert"s syndrome is characterized by unconjugated hyperbilirubinemia. A 5-year-old boy presented to our hospital with mild hyperbilirubinemia. The patient had persistent unconjugated hyperbilirubinemia with high liver enzymes and creatine phosphokinase. Haemolysis was excluded by normal haemoglobin, and reticulocyte count and finally he was diagnosed to have Gilbert"s syndrome. His creatine kinase concentration was 15600 U/l, and he had a deletion in the dystrophin gene. Finally, the patient was diagnosed both Gilbert"s syndrome and Duchenne muscular dystrophy. To our knowledge, this is the first report of the concomitance of Duchenne muscular dystrophy and Gilbert"s syndrome in the literature.
Anahtar Kelimeler
Kaynakça
- Emery AEH. Population frequencies of inherited neuromuscular diseases. A world survey. Neuromuscul Disord. 1991; 1:19-29.
- Owens D, Evans J. Population studies on Gilbert's syndrome. J Med Genet. 1975; 12:152-6.
- İncecik et al. Cukurova Medical Journal Powell LW, Billing BH, Williams HS. An assessment of red cell survival in idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome) by the use of radioactive di-isopropylfluorophosphate and chromium. Ann Med. 1967; 16:221-6.
- Ghany M, Hoofnagle JH. Approach to the patient with liver disease. In: Kasper DL, Braunwald E, Fauci AS, Hausern SL, Longo DL, Jameson JL, eds. Harrison’s Principles of Internal Medicine (16th ed). New York: McGraw-Hill. 2005:1819.
- Sherlock S, Dooley J. Jaundice. In: Diseases of the liver and biliary system, 11th Ed: 214-217. London, Blackwell. 2002.
- Borker A, Udall J, Warrier R. Coexisting Gilbert's syndrome and sickle cell disease. South Med J. 2002; 95:939-40.
- Yazışma Adresi / Address for Correspondence: Dr. Faruk İncecik Çukurova University Medical Faculty Department of Pediatric Neurology 01330 Balcalı-ADANA e-mail: fincecik@yahoo.com geliş tarihi/received :28.02.2013 kabul tarihi/accepted:18.03.2013
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Araştırma |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Aralık 2013 |
| Yayımlandığı Sayı | Yıl 2013 Cilt: 38 Sayı: 4 |
