A Particular SORL1 Micro-haplotype May Prevent Severe Liver Disease in a French Cohort of Alpha 1-Antitrypsin-deficient Children

Abstract

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Pediatric and Adult Liver Disease in Alpha-1 Antitrypsin Deficiency

“…24 The modifying factors remain to be elucidated, even if genetic polymorphisms, differences in protein transport, and degradation by proteasome or autophagy seem to be involved. 25 26 27 28 29 30…”

“…24 The modifying factors remain to be elucidated, even if genetic polymorphisms, differences in protein transport, and degradation by proteasome or autophagy seem to be involved. [25][26][27][28][29][30] A liver biopsy is rarely performed for the diagnosis of neonatal cholestasis. It can show a variety of nonspecific features, such as ductular paucity and bile duct proliferation, together with giant cells, steatosis, lobular hepatitis, and portal fibrosis.…”

Update Alpha-1-Antitrypsin-Mangel

“…Es wird vermutet, dass u. a. "Disease-modifier"-Gene eine Rolle spielen, welche wiederum die Akkumulation von fehlgefalteten Proteinen und deren Autophagie in den Hepatozyten beeinflussen [3,4]. Der größte Teil der Patienten mit einem Pi*ZZ-oder Pi*SZ-Genotyp entwickelt im Kindes-und Jugendalter keine oder zumindest keine schwere Lebererkrankung.…”