Çocukluk çağında Wilson hastalığı: 46 olgunun klinik, laboratuvar ve histopatolojik özellikleriyle birlikte tedavi sonuçlarının değerlendirilmesi
Küçük Resim Yok
Tarih
2007
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Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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 (<100 mcg/gün) D-penisilamin testi ile tanı desteklendi. Karaciğer biyopsisi yapılan 32 olgunun %40.6’sında karaciğerde yağlanma, %34.3’ünde kronik hepatit ve %31.2’sinde da siroz bulguları mevcuttu. Bakır boyaması hastaların %18.7’sinde pozitifti. Karaciğer kuru bakır ağırlığı ortalama ± standart sapma 418 ± 262 ?/gr (aralık 210–1292 ?/gr) saptandı. Kırk üç hastaya medikal tedavi başlandı. Toplam dokuz hastaya da karaciğer nakli uygulandı (3 canlı, 6 kadavra). Medikal tedavi alan olgulardan izole transaminaz yüksekliği ve aile taraması sırasında saptanan olgularda hastalığın progresyonunun durduğu gözlendi. Fulminan hepatit tablosunda başvuran ve karaciğer nakli yapılamayan iki hasta kaybedildi. Karaciğer nakli olan 9 hastanın ortalama 48 ± 24.5 aylık takiplerinde bir olgu cerrahi komplikasyonlar nedeniyle kaybedildi (sağ kalım oranı %88.8). On beş hasta kronik hepatit tablosunda takip edilmektedir. Sonuç olarak akraba evliliğinin sık olduğu ülkemizde akut ve kronik karaciğer hastalığı kliniğinde ile başvuran tüm hastaların ayırıcı tanısında Wilson hastalığı düşünülmeli ve tanı için araştırılmalıdır. Tanı konduktan sonra tüm aile bireyleri taranmalıdır. Erken tedavinin hayat kurtarıcı olduğu bu hastalıkta karaciğer nakli fulminan ve dekompanse formda olan hastalarda etkin bir tedavi seçeneğidir.
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&#8217;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 &#956;/gr (range 210&#8211;1292 &#956;/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&#8217;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.
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&#8217;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 &#956;/gr (range 210&#8211;1292 &#956;/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&#8217;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.
Açıklama
Anahtar Kelimeler
Pediatri
Kaynak
Ege Pediatri Bülteni
WoS Q Değeri
Scopus Q Değeri
Cilt
14
Sayı
3
