Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study / 대한소아소화기영양학회지

PURPOSE: Alpha-1 antitrypsin deficiency (A1ATD) in one of the most common genetic causes of liver disease in children. We aimed to analyze the clinical characteristics and outcomes of patients with A1ATD.METHODS: This study included patients with A1ATD from five pediatric hepatology units. Demographics, clinical findings, genetics, and outcome of the patients were recorded (n=25).RESULTS: Eight patients (32.0%) had homozygous PiZZ genotype while 17 (68.0%) had heterozygous genotype. Patients with PiZZ genotype had lower alpha-1 antitrypsin levels than patients with PiMZ genotype (37.6±7.7 mg/dL vs. 66.5±22.7 mg/dL, p=0.0001). Patients with PiZZ genotype were diagnosed earlier than patients with PiMZ genotype, but this was not significant (13±6.8 months vs. 23.7±30.1 months, p=0.192). Follow-up revealed the death of one patient (12.5%) with a homozygous mutation, and revealed that one patient had child A cirrhosis, five patients (62.5%) had chronic hepatitis, and one patient (12.5%) was asymptomatic. Nine of the 17 patients with a heterozygous mutation had chronic hepatitis (52.9%), two (11.7%) had child A cirrhosis, and six (35.2%) were asymptomatic. Overall, 18 (72%) of the 25 children had liver pathology in the long-term.CONCLUSION: Although prevalence is rare, patients with liver disorders should be checked for alpha-1 antitrypsin levels. Moreover, long-term follow-up is essential because most patients have a liver pathology.

Oral findings and salivary parameters in children with celiac disease: a preliminary study

The aim of this study was to investigate the prevalence of dental enamel defects, recurrent aphthous stomatitis [RAS] and caries experience and to measure salivary flow rate, buffer capacity, saliva and plaque pH and salivary cariogenic microflora in patients with celiac disease [CD] compared to healthy subjects. Thirty-five patients, aged 6-19 years, with a diagnosis of CD and 35 healthy children of the same age participated in the study. Enamel defects were diagnosed and classified using Aine's classification. The patients with RAS and dental caries were recorded using WHO criteria. The parents were interviewed about various oral health-related factors. Saliva samples were collected to measure the stimulated salivary flow rate, buffer capacity and pH values of saliva and plaque. Salivary mutans streptococci and lactobacilli were counted. The enamel defects and RAS prevalence were statistically higher [40 and 37.1%, respectively] in the CD group, and the prevalence of salivary mutans streptococci [48 and 14%] and lactobacilli [51 and 34%] colonization was statistically lower [p = 0.012, p = 0.010] in the CD group; the DMFS and dfs values were similar in both groups. CD appeared to be associated with a significantly higher prevalence of developing enamel defects and RAS, but a lower prevalence of salivary mutans streptococci and lactobacilli colonization, and the diagnosis of these oral manifestations might be helpful for an early diagnosis of CD