Yazar "Kalayci, Ayhan G." seçeneğine göre listele

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    Retrospective analysis of children with-1 antitrypsin deficiency
    (Lippincott Williams & Wilkins, 2018) Comba, Atakan; Demirbas, Fatma; Caltepe, Gonul; Eren, Esra; Kalayci, Ayhan G.
    Background-1 Antitrypsin (AAT) deficiency is the most frequently occurring genetic liver disorder. The association among classical -1 antitrypsin deficiency (AATD), chronic liver disease, and cirrhosis is common in adult patients but rare in children.AimTo assess the clinical characteristics of children with AATD and to compare symptoms between homozygous and heterozygous children.Materials and methodsThe study included 20 children who were found to have mutant Pi alleles. AAT phenotyping was conducted on patients with a low serum AAT level. The exclusion criteria included infectious, anatomic, and metabolic conditions. Symptoms on presentation, physical examination findings, laboratory values, liver biopsy results, and follow-up periods were recorded for each patient.ResultsThe patients included six (30%) girls and 14 (70%) boys, with a mean age of 6.35.1 (1-16) years. The PiZZ phenotype was present in eight (40%) and PiMZ in 12 (60%) patients. The most frequent symptom was elevated liver function test results. Three patients were referred with neonatal cholestasis and one with compensated cirrhosis. Eight patients underwent liver biopsy; all patients except one had periodic acid-Schiff-positive diastase-resistant globules in the hepatocytes. The mean follow-up period was 34 +/- 33 (12-101) months. At the end of follow-up, all patients with PiZZ were found to have chronic hepatitis, and one with cirrhosis. On the contrary, two patients with PiMZ were found to have chronic hepatitis.ConclusionChildren with classical AATD commonly have chronic liver disease. In heterozygous (PiMZ) children with AATD, enzyme levels can normalize with occasional fluctuations, sometimes causing delayed diagnosis.
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    The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease
    (Lippincott Williams & Wilkins, 2019) Kuloglu, Zarife; Kansu, Aydan; Selbuz, Suna; Kalayci, Ayhan G.; Sahin, Gulseren; Kirsaclioglu, Ceyda Tuna; Balci Sezer, Oya
    Objectives: Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate the prevalence of LAL-D in children with unexplained liver disease and to identify demographic and clinical features with a prospective, multicenter, cross-sectional study. Methods: Patients (aged 3 months-18 years) who had unexplained transaminase elevation, unexplained hepatomegaly or hepatosplenomegaly, obesity-unrelated liver steatosis, biopsy-proven cryptogenic fibrosis and cirrhosis, or liver transplantation for cryptogenic cirrhosis were enrolled. A Web-based electronic data collection system was used. LAL activity (nmol/punch/h) was measured using the dried blood spot method and classified as LAL-D(<0.02), intermediate (0.02-0.37) or normal (>0.37). Asecond dried blood spot sample was obtained from patients with intermediate LAL activity for confirmation of the result. Results: A total of 810 children (median age 5.6 years) from 795 families were enrolled. The reasons for enrollment were unexplained transaminase elevation (62%), unexplained organomegaly (45%), obesity-unrelated liver steatosis (26%), cryptogenic fibrosis and cirrhosis (6%), and liver transplantation for cryptogenic cirrhosis (<1%). LAL activity was normal in 634 (78%) and intermediate in 174 (21%) patients. LAL-D was identified in 2 siblings aged 15 and 6 years born to unrelated parents. Dyslipidemia, liver steatosis, and mild increase in aminotransferases were common features in these patients. Moreover, the 15-year-old patient showed growth failure and microvesicular steatosis, portal inflammation, and bridging fibrosis in the liver biopsy. Based on 795 families, 2 siblings in the same family were identified as LAL-D cases, making the prevalence of LAL-D in this study population, 0.1% (0.125%-0.606%). In the repeated measurement (76/174), LAL activity remained at the intermediate level in 38 patients. Conclusions: Overall, the frequency of LAL-D patients in this study (0.1%) suggests that LAL-D seems to be rare even in the selected high-risk population.