Esra ERDEN, Nurten GİRGİN, Zarife KULOĞLU, Fulya DEMİRÇEKEN, İncesoy Sonay ÖZDEMİR, Aydan KANSU

Ciddi kanamayla tanı alan alfa-1 antitripsin eksikliği olan bir olgu

Alfa-1 antitripsin eksikliği (A1ATE) karaciğer hücresi endoplazmik retikulumunda (ER) sıra dışı A1AT birikimine neden olarak karaciğer hasarına yol açan otozomal çekinik (resesif) geçen kalıtsal bir hastalıktır. Alfa-1 antitripsin eksikliği bebeklik dönemi hemorajik hastalığına, kolestaza ya da kronik karaciğer hastalığına neden olabilir. Kolestaz ve bebeklik dönemi hemorajik hastalığı gelişen bir A1ATE (PiZZ fenotipi) olan olgu sunulmuştur. Bu olgu ile yenidoğanın geç hemorajik hastalığının nedeninin tanı almamış kolestaz olabileceğinin unutulmaması, 15 günden uzun süren sarılığı olan bebeklerin yenidoğan kolestaz nedenleri açısından mutlaka değerlendirilmeleri gerektiği, erken tanı almayan yenidoğan kolestazlarının kafa içi kanama gibi ciddi sonuçlar doğurabileceği ve erken tanı ve tedavinin önemi vurgulanmak istendi.

A case with alpha-1 antitrypsin deficiency who had severe bleeding

Alpha-1-antitrypsin deficiency is an autosomal recessive disease in which liver disease results from retention of abnormal alpha-1-antitrypsin in the endoplasmic reticulum of hepatocytes. In childhood, alpha-1-antitrypsin deficiency may present as cholestasis, late hemorrhagic disease of infancy or chronic liver disease. Here, we present a case with alpha-1-antitrypsin deficiency who developed cholestasis and late hemorrahagic disease of infancy. We emphasize that the cause of late hemorrhagic disease of infancy may be unrecognized neonatal cholestasis and, that all infants who have jaundice for more than 15 days should be evaluated for neonatal cholestasis. Unrecognized neonatal cholestasis can result in severe conditions such as intracranial bleeding therefore, early diagnosis and treatment are essential.

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