Wilson’s disease in childhood: evaluation of 46 cases in respect to clinical, laboratory and histopathological features along with treatment results
| Autor: | Çiğdem Arıkan, Murat Çakır, Hasan Ali Yüksekkaya, Maşallah Baran, Gökhan Tümgör, Funda Özgenç, Raşit Vural Yağcı, Sema Aydoğdu |
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| Přispěvatelé: | Ege Üniversitesi |
| Jazyk: | turečtina |
| Rok vydání: | 2007 |
| Předmět: | |
| Popis: | Wilson hastalığı, hepatositlerden bakır atılımındaki bozukluk sonucu birçok organ ve dokuda toksik miktarda bakır birikimi ile karakterize otozomal resesif bir hastalıktır. Bu çalışmada Wilson hastalığı ile izlediğimiz çocukların klinik, laboratuvar ve histopatolojik özellikleriyle beraber tedavi sonuçlarını değerlendirdik. Çalışmaya alınan 46 hastanın ortalama yaşları 9.2 ± 3.4 yıl (3–17 yaş arası) idi ve hastaların %17’si 5 yaşın altında idi. Yirmi yedi hastanın (%56) anne babası arasında yakın akrabalık vardı ve 23 hastanın (%50) yakınlarında da kronik karaciğer hastalığı öyküsü mevcuttu. On iki hastaya (%26), aile taraması sırasında tanı kondu. Hastaların %20’ye yakınında santral sinir sistemi tutulumu, %10’nunda hematolojik tutulum, %6.5’inde renal tutulum ve %2’sinde kas tutulumu vardı. Tanıya yönelik yapılan laboratuvar ve klinik incelemede; hastaların %80’ninde seruloplazmin seviyesi düşüklük, %43.4’ünde Kayser- Fleischer halkası (KF) halkası mevcuttu. Yirmi dört saatlik idrar bakırı 42 hastada (%91.3) yüksek, dört hastada ise sınırın altında gelince ( Wilson disease is an inherited autosomal recessive disorder characterized by accumulation of excessive copper in many organs and tissues as a consequence of a defect in the excretion of copper from the hepatocytes. In this study; we analyze the clinical, laboratory and histopathological features of the children with Wilson’s disease along with treatment results. Mean age of the cases were 9.2 ± 3.4 years (range 3-17 years) and 17% of the cases were under 5 years of age. Consanguinity was found in 27 patients (56%), and 23 patients (50%) had chronic liver disease in close relatives. Diagnosis of the disease was made during the screening of the family members in 12 patients (26%). Approximately 20% of the patients had central nervous system involvement, 10% had hematological, 6.5% had renal, and 2% had muscle involvement. Ceruloplasmin levels were low in 80% of the patients, and 43.4% of the patients had Kayser-Fleischer ring. 24-hour urinary copper was high in 42 patients (91.3%), and the diagnosis was made on the basis of Dpenicillamine test in four patients. Liver biopsies of 32 patients revealed stetosis, chronic hepatitis and cirrhosis in 40.6%, 34.3% and 31.2% of the patients, respectively. Copper staining was positive in 18.7% of the patients. Dry liver copper levels were 418 ± 262 μ/gr (range 210–1292 μ/gr). Medical treatment was prescribed in 43 patients. Nine patients underwent liver transplantation (3 living, 6 cadaveric). The progression of the disease was prevented with medical treatment in patients with isolated elevated transaminases and diagnosed with family screening. Two patients that were not eligible for liver transplantation with fulminant hepatitis were lost. Only one patient died due to surgical complications after liver transplantation (overall survival rate 88.8%) after median of 48 ± 24.5 months. Fifteen patients are in follow-up with chronic hepatitis. As a resultö Wilson’s disease must be kept in mind and evaluated for the differential diagnosis in all the patients with acute and chronic liver disease. After diagnosis, all the family members must be screened. Liver transplantation is effective in patients with fulminant and decompensated liver disease where early medical treatment is life saving. |
| Databáze: | OpenAIRE |
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