Analysis of SLC25A13 gene mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency / 中华医学遗传学杂志

OBJECTIVE To identify potential mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). METHODS The SLC25A13 gene was analyzed by next-generation sequencing. Suspected mutations were confirmed by PCR and Sanger sequencing in the probands and their parents. Impact of novel mutations was predicted with PolyPhen-2 software. RESULTS All neonates have harbored mutations of the SLC25A13 gene. Eight mutations were discovered, which included two novel mutations (c.1357A>G and c.1663dup23). All parents were found to be carriers of the mutations. CONCLUSION Mutations of the SLC25A13 gene probably underlie the NICCD among the five patients, among which 851del4 and 1638-1660dup were the most common ones. This has enriched the spectrum of SLC25A13 mutation in association with NICCD.

Autoimmune hepatitis in children: a case report and literature review / 临床儿科杂志

Objective To explore the early diagnosis and standard treatment of autoimmune hepatitis (AIH).Methods The process of clinical diagnosis and treatment in 2 children with AIH was retrospectively analyzed.The related literatures were reviewed.Results Two males were 6 years and 1 month old and 6 monthes and 18 days old,respectively.Both of them had the symptom of jaundice at onset,accompanied with the elevate aminotransferase and positive autoantibodies.One case showed elevated serum IgG and interface hepatitis in liver pathology,and all other causes were excluded.He had a good response to the treatment of hormone combined with azathioprine.The other case had a poor response to the treatment of single hormone.Conclusions Childhood AIH is rare in clinic.Its response to the therapy of glucocorticoid and immune inhibitors is good.So it should be diagnosised and treated early.

Clinical analysis of childhood eosinophilic gastroenteritis in two cases / 临床儿科杂志

Objective To explore the clinical characteristics of eosinophilic gastroenteritis. Methods The clinical data of 2 children with eosinophilic gastroenteritis was retrospectively analyzed. Results Eosinophilia was found in both cases and path-ological examination indicated eosinophil infiltration in intestinal mucosa. The clinical symptoms were improved after hypoaller-genic diet, amino acid formula and anti-allergy treatment. Conclusions Eosinophilic gastroenteritis is characterized by eosino-phil infiltration with unknown pathogenic factor leading the treatment of eosinophilic gastroenteritis lacking of sound evidence.