The role of IL22 polymorphisms on liver cirrhosis in patients with hepatitis B virus: A case control study

We present the first case report of GSD type IXa in Northeast China caused by mutation of PHKA2. An 11-year-old boy was referred to our hospital because of liver enlargement with consistently elevated transaminase levels over 6 months. Histopathological results following an ultrasound-guided liver biopsy confirmed a diagnosis of GSD. Further genetic testing showed that the patient had GSD type IXa caused by the c.133C>T mutation in PHAK2. We placed the patient on a high-protein and high-starch diet and provided hepatoprotective and supportive therapy. The patient's transaminase levels decreased significantly and were nearly normal at 10-month follow-up. This is the first reported case of GSD type IXa in Northeast China. We hope that the detailed and complete report of this case will provide a reference for the diagnosis of liver enlargement of unknown etiology in future clinical practice.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research